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Disease on EC 3.5.4.6 - AMP deaminase

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DISEASE
TITLE OF PUBLICATION
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6-phosphofructokinase deficiency
The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency.
The contribution of Ca2+-calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency.
Acidosis
Adenine nucleotide degradation in human skeletal muscle during prolonged exercise.
AMP deaminase binding in contracting rat skeletal muscle.
ATP depletion in slow-twitch red muscle of rat.
Influence of acidosis on AMP deaminase activity in contracting fast-twitch muscle.
Muscle glutamine production in diabetic ketoacidotic rats.
Acidosis, Lactic
Clinical disorders of muscle energy metabolism.
Adenocarcinoma
High expression of AMPD2 and obesity are associated with poor prognosis in colorectal cancer.
Alzheimer Disease
Elevated adenosine monophosphate deaminase activity in Alzheimer's disease brain.
amidase deficiency
A Competitive Allele-specific Oligomers Polymerase Chain Reaction Assay for the cis Double Mutation in AMPD1 That Is the Major Cause of Myo-adenylate Deaminase Deficiency.
Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency.
Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency.
Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency.
Primary Adenosine Monophosphate Deaminase Deficiency in a Hypotonic Infant.
amp deaminase deficiency
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
A point mutation responsible for human erythrocyte AMP deaminase deficiency.
A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.
Adenine nucleotide metabolism in contracting skeletal muscle.
Adenosine inhibits depolarization-induced Ca(2+) release in mammalian skeletal muscle.
Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood.
Adenylate deaminase deficiency in a hypotonic infant.
Adenylate deaminase deficiency in a mutant murine T cell lymphoma cell line.
Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.
AMP Deaminase 3 Deficiency Enhanced 5'-AMP Induction of Hypometabolism.
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.
AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.
AMP deaminase deficiency: study of the human skeletal muscle purine metabolism during ischaemic isometric exercise.
AMPD1 polymorphism and response to regadenoson.
AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
AMPD3 is involved in anthrax LeTx-induced macrophage cell death.
AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'.
Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency.
Beneficial effect of D-ribose in patient with myoadenylate deaminase deficiency.
Biochemical and genetic analysis of AMP deaminase deficiency in cultured mammalian cells.
Biochemistry: index of the functional state of the heart?
Cardiac involvement in primary myopathies.
CD73 and AMPD3 deficiency enhance metabolic performance via erythrocyte ATP that decreases hemoglobin oxygen affinity.
Characterization of the human and rat myoadenylate deaminase genes.
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association.
Clinical disorders of muscle energy metabolism.
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.
Clinical use of creatine in neuromuscular and neurometabolic disorders.
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Correction: AMP Deaminase 3 Deficiency Enhanced 5'-AMP Induction of Hypometabolism.
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing.
Differentiating idiopathic inflammatory myopathies from metabolic myopathies.
Disruption of the purine nucleotide cycle. A potential explanation for muscle dysfunction in myoadenylate deaminase deficiency.
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.
Effect of isolated AMP deaminase deficiency on skeletal muscle function.
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Effects of oral ribose on muscle metabolism during bicycle ergometer in AMPD-deficient patients.
Ergometer exercise in myoadenylate deaminase deficient patients.
Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.
Exercising muscle does not produce hypoxanthine in adenylate deaminase deficiency.
Exertional myalgia syndrome associated with diminished serum ammonia elevation in ischemic exercise testing.
Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.
Expression of different isoenzymes of adenylate deaminase in cultured human muscle cells. Relation to myoadenylate deaminase deficiency.
Failure of D-ribose in myoadenylate deaminase deficiency.
Familial myoadenylate deaminase deficiency and exertional myalgia.
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
Gene mutations for human erythrocyte AMP deaminase deficiency.
Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.
Genetic characteristics of myoadenylate deaminase deficiency.
Genetic risk factors associated with lipid-lowering drug-induced myopathies.
Human myoadenylate deaminase deficiency.
Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity.
Immunolocalization of AMP-deaminase isozymes in human skeletal muscle and cultured muscle cells: concentration of isoform M at the neuromuscular junction.
Immunologic distinction of human muscle adenylate deaminase from the isoenzyme(s) in human peripheral blood cells: implications for myoadenylate deaminase deficiency.
Improvement of screening in exertional myalgia with a standardized ischemic forearm test.
Influence on myoadenylate deaminase function in rat skeletal muscle after homologous and heterologous immunization with the purified enzyme.
Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine.
Isozymes of AMP-Deaminase in Muscles Myasthenia Gravis Patients.
Kinetic and immunologic evidence for a complete gene block in myoadenylate deaminase deficiency.
Levels of adenylate deaminase, adenylate kinase, and creatine kinase in frozen human muscle biopsy specimens relative to type 1/type 2 fiber distribution: evidence for a carrier state of myoadenylate deaminase deficiency.
McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency.
Medical implications of the lactate and ammonia relationship in anaerobic exercise.
Metabolic myopathies.
Metabolism of D-ribose administered continuously to healthy persons and to patients with myoadenylate deaminase deficiency.
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.
Molecular analysis of acquired myoadenylate deaminase deficiency in polymyositis (idiopathic inflammatory myopathy).
Molecular analysis of Spanish patients with AMP deaminase deficiency.
Molecular analysis of the myoadenylate deaminase deficiencies.
Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.
Molecular basis of AMP deaminase deficiency in skeletal muscle.
Molecular biology of AMP deaminase deficiency.
Muscle adenylate deaminase deficiency. Report of six new cases.
Muscle AMP deaminase deficiency in 2% of a healthy population.
Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle.
Myoadenylate deaminase deficiency and forearm ischemic exercise testing.
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship?
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.
Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans.
Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain.
Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis.
Myoadenylate deaminase deficiency in children.
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy.
Myoadenylate deaminase deficiency myopathy in pregnancy.
Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain.
Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle.
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
Myoadenylate deaminase deficiency with severe rhabdomyolysis.
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
Myoadenylate deaminase deficiency.
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation.
Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families.
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Myoadenylate deaminase deficiency: a new disease of muscle.
Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies.
Myoadenylate deaminase deficiency: an enzyme defect in search of a disease.
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.
Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing.
Myoadenylate deaminase deficiency: fact and fancy.
Myoadenylate deaminase deficiency: inherited and acquired forms.
Myoadenylate deaminase deficiency: primary and secondary types.
Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose.
Myogenic hyperuricemia: what can we learn from metabolic myopathies?
Myotonia congenita and myoadenylate deaminase deficiency: case report.
New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency.
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency.
Primary Adenosine Monophosphate Deaminase Deficiency in a Hypotonic Infant.
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency.
Progressive myalgias and polyarthralgias in a patient with myoadenylate deaminase deficiency.
Proteinuria in AMPD2-deficient mice.
Rapid determination of the hypoxanthine increase in ischemic exercise tests.
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency.
Ribose administration during exercise: effects on substrates and products of energy metabolism in healthy subjects and a patient with myoadenylate deaminase deficiency.
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency.
Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease.
Stain for skeletal muscle adenylate deaminase. An effective tetrazolium stain for frozen biopsy specimens.
Tension myalgia versus myoadenylate deaminase deficiency: a case report.
The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease.
The genetic basis of myoadenylate deaminase deficiency is heterogeneous.
The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy.
The oxidative pentose phosphate pathway in the heart: regulation, physiological significance, and clinical implications.
The purine nucleotide cycle and its molecular defects.
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.
Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency.
Use of dynamic tests of muscle function and histomorphometry of quadriceps muscle biopsies in the investigation of patients with chronic alcohol misuse and chronic fatigue syndrome.
What can metabolic myopathies teach us about exercise physiology?
[A 22-year-old man with long-standing weakness and atrophy predominantly in the lower extremities]
[AMP deaminase deficiency (myoadenylate deaminase). Disease or syndrome?]
[AMP deaminase deficiency]
[AMPD genes and urate metabolism]
[Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry]
[McArdle's disease]
[Metabolic intolerance to exercise]
[Muscle AMP deaminase deficiency]
[Muscle weakness and CK elevation: is it myositis?]
[Muscular intolerance of exercise. Current data]
[Myoadenylate deaminase deficiency among patients with myasthenia gravis--preliminary results of exercise]
[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise]
[Myoadenylate deaminase deficiency]
[Myopathy in AMP deaminase deficiency]
Amyotrophic Lateral Sclerosis
Metabolic Aspects of Adenosine Functions in the Brain.
Anemia
AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation.
Erythrocyte membrane associated enzymes of hemolytic anemias: ATPases, AMP deaminase and GAPD.
Anemia, Hemolytic
AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
Anemia, Sickle Cell
Ca2+-CaM activation of AMP deaminase contributes to adenine nucleotide dysregulation and phosphatidylserine externalization in human sickle erythrocytes.
Anthrax
AMPD3 is involved in anthrax LeTx-induced macrophage cell death.
Arthralgia
Progressive myalgias and polyarthralgias in a patient with myoadenylate deaminase deficiency.
Arthritis, Rheumatoid
Effect of the 34C>T variant in the AMPD1 gene on the clinical response to methotrexate in patients with rheumatoid arthritis: comment on the article by Wessels et al.
Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients.
Asthma
[The effect of aminophylline on plasma oxypurines in patients with bronchial asthma or cor pulmonale]
Atherosclerosis
Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease.
Autoimmune Diseases
Treatment of experimental autoimmune encephalomyelitis with adenylate deaminase from Penicillium lanoso-viride.
Barth Syndrome
Cardiac involvement in primary myopathies.
Brugada Syndrome
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency.
Carcinogenesis
CHANGES IN THE ADENYLIC ACID DEAMINASE ACTIVITY OF RAT LIVER DURING CARCINOGENESIS.
[Influence of thymostimulin on the activity of certain enzymes of adenosine and AMP metabolism in lymphocytes of rats with mammary cancer]
Carcinoma
Comparative immunologic and kinetic evaluation of AMP-deaminase isolated from normal human liver and hepatocellular carcinoma (HCC).
Studies on purine enzymes in experimental colitis.
Carcinoma, Ehrlich Tumor
Role of the adenylate deaminase reaction in regulation of adenine nucleotide metabolism in Ehrlich ascites tumor cells.
[Application of tiazofurin in the study of regulation of AMP deaminase in intact malignant cells]
Carcinoma, Hepatocellular
Comparative immunologic and kinetic evaluation of AMP-deaminase isolated from normal human liver and hepatocellular carcinoma (HCC).
Enzymes of purine metabolism in cancer.
Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC).
Cardiomegaly
Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease.
Cardiomyopathy, Dilated
Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome).
Cardiomyopathy, Hypertrophic
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
Cardiovascular Diseases
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.
Chemical and Drug Induced Liver Injury
AMP deaminase and adenosine deaminase activities in liver and brain regions in acute ammonia intoxication and subacute toxic hepatitis.
Colitis
Blood purine and energy status in rats with colitis.
Colonic Neoplasms
Gene expression profiling following constitutive activation of MEK1 and transformation of rat intestinal epithelial cells.
High expression of AMPD2 and obesity are associated with poor prognosis in colorectal cancer.
Colorectal Neoplasms
High expression of AMPD2 and obesity are associated with poor prognosis in colorectal cancer.
Overexpression of AMPD2 indicates poor prognosis in colorectal cancer patients via the Notch3 signaling pathway.
Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
Contracture
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship?
Coronary Artery Disease
A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease.
AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization.
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients.
Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome).
The impact of AMPD1 gene polymorphism on vascular function and inflammation in patients with coronary artery disease.
Coronary Disease
Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease.
creatine kinase deficiency
Alterations in AMP deaminase activity and kinetics in skeletal muscle of creatine kinase-deficient mice.
Crohn Disease
New bioinformatics approach to analyze gene expressions and signaling pathways reveals unique purine gene dysregulation profiles that distinguish between CD and UC.
Crush Syndrome
Activity of enzymes of adenyline compounds metabolism during crush and decompression of muscle tissue. Part I. Adenylate deaminase activity at experimental crush syndrome.
Cysts
Super-enhancer-driven metabolic reprogramming promotes cystogenesis in autosomal dominant polycystic kidney disease.
Diabetes Mellitus, Type 2
Xanthine oxidoreductase-mediated injury is amplified by upregulated AMP deaminase in type 2 diabetic rat hearts under the condition of pressure overload.
Disorders of Excessive Somnolence
Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency.
Distal Myopathies
High AMP deaminase activity in rimmed vacuoles of skeletal muscle.
Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle.
Encephalomyelitis
Treatment of experimental autoimmune encephalomyelitis with adenylate deaminase from Penicillium lanoso-viride.
Encephalomyelitis, Autoimmune, Experimental
Treatment of experimental autoimmune encephalomyelitis with adenylate deaminase from Penicillium lanoso-viride.
Endotoxemia
Circulating adenosine increases during human experimental endotoxemia but blockade of its receptor does not influence the immune response and subsequent organ injury.
Epilepsy
Metabolic Aspects of Adenosine Functions in the Brain.
Essential Hypertension
Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients.
[Value of oxypurines and uric acid in plasma, renal excretion of oxypurines and uric acid as well as plasma adenosine deaminase and AMP deaminase activity in patients with essential hypertension]
Fatigue Syndrome, Chronic
Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Fatty Liver
Counteracting roles of AMP deaminase and AMP kinase in the development of fatty liver.
Fibromyalgia
Tension myalgia versus myoadenylate deaminase deficiency: a case report.
Gastrointestinal Stromal Tumors
AMPD3 is associated with the malignant characteristics of gastrointestinal stromal tumors.
Genetic Diseases, Inborn
The effect of AMPD1 genotype on blood flow response to sprint exercise.
Gigantism
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
glucan 1,4-alpha-glucosidase deficiency
High AMP deaminase activity in rimmed vacuoles of skeletal muscle.
Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle.
Glucose Intolerance
A novel method for testing association of multiple genetic markers with a multinomial trait.
Role of AMPD2 in impaired glucose tolerance induced by high fructose diet.
glycogen phosphorylase deficiency
McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency.
Phenotype modulators in myophosphorylase deficiency.
Glycogen Storage Disease
Cardiac involvement in primary myopathies.
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing.
Exercise efficiency impairment in metabolic myopathies.
Metabolic myopathies.
Metabolic myopathies: update 2009.
Rapid determination of the hypoxanthine increase in ischemic exercise tests.
Glycogen Storage Disease Type II
Cardiac involvement in primary myopathies.
High AMP deaminase activity in rimmed vacuoles of skeletal muscle.
Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle.
Glycogen Storage Disease Type V
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.
Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.
Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.
Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine.
McArdle disease causing rhabdomyolysis following vaginal delivery.
McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency.
Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease.
Phenotype modulators in myophosphorylase deficiency.
Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease.
The oxidative pentose phosphate pathway in the heart: regulation, physiological significance, and clinical implications.
[McArdle's disease]
Glycogen Storage Disease Type VII
Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide.
Gout
Abnormal AMP deaminase in primary gout.
Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout.
Heart Diseases
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
Biological efficiency of AMP deaminase inhibitor: 3-[2-(3-carboxy-4-bromo-5,6,7,8-tetrahydronaphthyl)ethyl]-3,6,7,8-tetrahydroimidazo[4,5]-[1,3]diazepin-8-OL.
Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.
Effect of AMP-deaminase 3 knock-out in mice on enzyme activity in heart and other organs.
Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients.
Modulation of AMP deaminase in rat hearts subjected to ischemia and reperfusion by purine riboside.
Pharmacological inhibition of AMP-deaminase in rat cardiac myocytes.
Protection of mouse heart against hypoxic damage by AMP deaminase inhibition.
Heart Failure
A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease.
A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction.
A polymorphism of the gene encoding AMPD1: clinical impact and proposed mechanisms in congestive heart failure.
Adenosine and cardioprotection: what can we learn from nature's genetic polymorphism?
AMP Deaminase 1 Gene Polymorphism and Heart Disease-A Genetic Association That Highlights New Treatment.
AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization.
AMPD1 gene mutation in congestive heart failure: new insights into the pathobiology of disease progression.
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
AMPD1 gene polymorphism and survival in patients with stable congestive heart failure.
Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene.
C34T AMP deaminase 1 gene mutation protects cardiac function in donors.
Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.
Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure.
Decreased cardiac activity of AMP deaminase in subjects with the AMPD1 mutation--a potential mechanism of protection in heart failure.
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.
Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients.
Metalloproteinase inhibitor counters high-energy phosphate depletion and AMP deaminase activity enhancing ventricular diastolic compliance in subacute heart failure.
Positive and negative elements mediate control of alternative splicing in the AMPD1 gene.
Protection of mouse heart against hypoxic damage by AMP deaminase inhibition.
Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome).
Shortage of Cellular ATP as a Cause of Diseases and Strategies to Enhance ATP.
The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure. A study on 686 consecutive patients.
The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients.
The role of a common adenosine monophosphate deaminase (AMPD)-1 polymorphism in outcomes of ischemic and nonischemic heart failure.
Hepatitis
Activation of AMP deaminase and adenosine deaminase in the liver during ammonia poisoning and hepatitis.
AMP deaminase and adenosine deaminase activities in liver and brain regions in acute ammonia intoxication and subacute toxic hepatitis.
Huntington Disease
Metabolic Aspects of Adenosine Functions in the Brain.
Hypercholesterolemia
A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice.
Infections
Antischistosomal and liver protective effects of Curcuma longa extract in Schistosoma mansoni infected mice.
Biochemical genetic analysis of 2',3'-dideoxyadenosine metabolism in human T lymphocytes.
Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients.
Protective effect of adenylate deaminase (from Penicillium lanoso-viride) against acute infections in mice.
Severe rhabdomyolysis caused by Plasmodium vivax malaria in the Brazilian Amazon.
Inflammatory Bowel Diseases
Studies on purine enzymes in experimental colitis.
Influenza, Human
Protective effect of adenylate deaminase (from Penicillium lanoso-viride) against acute infections in mice.
Insulin Resistance
AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.
AMPD1: a novel therapeutic target for reversing insulin resistance.
Erratum to: AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.
Inhibition of AMP deaminase activity does not improve glucose control in rodent models of insulin resistance or diabetes.
Kidney Failure, Chronic
Degradation of adenine nucleotides in the erythrocytes of patients with chronic renal failure.
Leigh Disease
Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.
Leukemia, Lymphocytic, Chronic, B-Cell
Enzymological studies in chronic lymphocytic leukemia.
Liver Failure
Activation of AMP deaminase and adenosine deaminase in the liver during ammonia poisoning and hepatitis.
Lung Injury
AMP deaminase 3 plays a critical role in remote reperfusion lung injury.
Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate.
Lupus Erythematosus, Systemic
NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker.
Lymphatic Metastasis
Expression of serum AMPD1 in thyroid carcinoma and its clinical significance.
Lymphoma
Adenylate deaminase deficiency in a mutant murine T cell lymphoma cell line.
Effects of deoxycoformycin in mice. II. Differences between the drug sensitivities and purine metabolizing enzymes of transplantable lymphomas of varying immunologic phenotypes.
Lymphoma, T-Cell
Adenylate deaminase deficiency in a mutant murine T cell lymphoma cell line.
Malaria
Adenosine monophosphate deaminase 3 activation shortens erythrocyte half-life and provides malaria resistance in mice.
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency.
Severe rhabdomyolysis caused by Plasmodium vivax malaria in the Brazilian Amazon.
The deamination of adenosine and adenosine monophosphate in Plasmodium falciparum-infected human erythrocytes: in vitro use of 2'deoxycoformycin and AMP deaminase-deficient red cells.
Malaria, Falciparum
Severe rhabdomyolysis caused by Plasmodium vivax malaria in the Brazilian Amazon.
Malnutrition
Effect of undernutrition on some enzymes of purine metabolism in different regions of developing rat brain.
Melanoma
Nucleotide-metabolism and chromosome alterations in human-malignant melanoma xenografts.
Metabolic Diseases
Molecular analysis of Spanish patients with AMP deaminase deficiency.
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation.
Metabolic Syndrome
Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
Gout and Metabolic Syndrome: a Tangled Web.
Microcephaly
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Mitochondrial Diseases
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing.
Exercise efficiency impairment in metabolic myopathies.
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.
Mitochondrial Myopathies
Metabolic myopathies: update 2009.
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency.
Muscle Cramp
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.
Cramps, spasms and muscle stiffness.
Enzymes of the purine nucleotide cycle in muscle of patients with exercise intolerance.
Metabolic myopathies.
Myoadenylate deaminase deficiency and forearm ischemic exercise testing.
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.
Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout.
Myoadenylate deaminase deficiency.
[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise]
Muscle Hypotonia
Primary Adenosine Monophosphate Deaminase Deficiency in a Hypotonic Infant.
Muscle Neoplasms
AMP-deaminase from human uterine muscle neoplasm (leiomyoma).
Muscle Weakness
Daily supplementation of D-ribose shows no therapeutic benefits in the MHC-I transgenic mouse model of inflammatory myositis.
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
Myoadenylate deaminase deficiency.
Primary Adenosine Monophosphate Deaminase Deficiency in a Hypotonic Infant.
The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy.
Muscular Atrophy
Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression.
Muscular Diseases
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
Acute myopathy associated with chronic licorice ingestion: reversible loss of myoadenylate deaminase activity.
Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.
Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.
Clinical use of creatine in neuromuscular and neurometabolic disorders.
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
Functionally distinct elements are required for expression of the AMPD1 gene in myocytes.
High AMP deaminase activity in rimmed vacuoles of skeletal muscle.
Metabolic myopathies: update 2009.
Molecular analysis of the myoadenylate deaminase deficiencies.
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
Myoadenylate deaminase deficiency myopathy in pregnancy.
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.
Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency.
Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects.
Sensitive, optimized assay for serum AMP deaminase.
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.
[AMP-aminohydrolase of skeletal muscles in muscular diseases]
[AMPD genes and urate metabolism]
[Biochemical studies on muscle disorder. Change of the activity of AMP-deaminase in skeletal muscle and the activity of adenosine-deaminase in serum.]
[Genetic marker of statin-induced rhabdomyolysis].
[McArdle's disease]
[Metabolic intolerance to exercise]
[Muscular intolerance of exercise. Current data]
[Myopathy in AMP deaminase deficiency]
Muscular Dystrophies
AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies.
Muscle adenylic acid deaminase activity. Selective decrease in early-onset Duchenne muscular dystrophy.
Muscular Dystrophy, Duchenne
Cardiac involvement in primary myopathies.
Muscle adenylic acid deaminase activity. Selective decrease in early-onset Duchenne muscular dystrophy.
Myalgia
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association.
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.
Daily supplementation of D-ribose shows no therapeutic benefits in the MHC-I transgenic mouse model of inflammatory myositis.
Familial myoadenylate deaminase deficiency and exertional myalgia.
Myalgia with partial defects of mitochondrial enzyme and myoadenylate deaminase.
Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain.
Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain.
Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout.
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose.
Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction.
Myotonia congenita and myoadenylate deaminase deficiency: case report.
Tension myalgia versus myoadenylate deaminase deficiency: a case report.
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.
Myasthenia Gravis
AMP-Deaminase from Thymus of Patients with Myasthenia Gravis.
Isozymes of AMP-Deaminase in Muscles Myasthenia Gravis Patients.
Myocardial Infarction
AMP deaminase, 5'-nucleotidase and adenosine deaminase in rat myocardial tissue in myocardial infarction and hypothermia.
Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients.
Stimulation of DNA synthesis and AMP deaminase activity in rat hearts during isoproterenol-induced myocardial infarction.
Myocardial Ischemia
Adenosine and cardioprotection: what can we learn from nature's genetic polymorphism?
AMP Deaminase 1 Gene Polymorphism and Heart Disease-A Genetic Association That Highlights New Treatment.
Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene.
Decreased cardiac activity of AMP deaminase in subjects with the AMPD1 mutation--a potential mechanism of protection in heart failure.
Protection of mouse heart against hypoxic damage by AMP deaminase inhibition.
Myoglobinuria
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Metabolic causes of myoglobinuria.
Metabolic myopathies.
Myopathies, Structural, Congenital
Cardiac involvement in primary myopathies.
Myopathy, Central Core
Cardiac involvement in primary myopathies.
Myositis
Clinical use of creatine in neuromuscular and neurometabolic disorders.
Daily supplementation of D-ribose shows no therapeutic benefits in the MHC-I transgenic mouse model of inflammatory myositis.
Muscle biopsy features in critical ill patients with 2009 influenza A (H1N1) virus infection.
The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy.
Myotonia Congenita
Myotonia congenita and myoadenylate deaminase deficiency: case report.
Myotonic Dystrophy
Cardiac involvement in primary myopathies.
Neoplasm Metastasis
Expression of serum AMPD1 in thyroid carcinoma and its clinical significance.
Neoplasms
Adenosine deaminase and AMP deaminase activities in blood of cancer patients.
Adenylic acid deaminase activity in spectrum of rat tumors and in normal liver.
AMPD3 is associated with the malignant characteristics of gastrointestinal stromal tumors.
Biomarkers Associated with Tumor Heterogeneity in Prostate Cancer.
Characterizing and optimizing human anticancer drug targets based on topological properties in the context of biological pathways.
Distinctive gene expression of human lung adenocarcinomas carrying LKB1 mutations.
Expression of serum AMPD1 in thyroid carcinoma and its clinical significance.
Gene expression profiling following constitutive activation of MEK1 and transformation of rat intestinal epithelial cells.
High expression of AMPD2 and obesity are associated with poor prognosis in colorectal cancer.
Overexpression of AMPD2 indicates poor prognosis in colorectal cancer patients via the Notch3 signaling pathway.
Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate.
Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome).
Role of the adenylate deaminase reaction in regulation of adenine nucleotide metabolism in Ehrlich ascites tumor cells.
[Application of tiazofurin in the study of regulation of AMP deaminase in intact malignant cells]
Nephrotic Syndrome
A mutation in Ampd2 is associated with nephrotic syndrome and hypercholesterolemia in mice.
Neurodegenerative Diseases
Metabolic Aspects of Adenosine Functions in the Brain.
Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis.
Neuromuscular Diseases
Myoadenylate deaminase deficiency: inherited and acquired forms.
Myoadenylate deaminase deficiency: primary and secondary types.
Myotonia congenita and myoadenylate deaminase deficiency: case report.
[AMP-aminohydrolase of skeletal muscles in muscular diseases]
[The histochemical formation of the myoadenylate deaminase reaction in human skeletal musculature]
Obesity
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
High expression of AMPD2 and obesity are associated with poor prognosis in colorectal cancer.
Olivopontocerebellar Atrophies
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy.
Osteoarthritis
[Clinico-pathogenetic significance of enzymes regulating nucleic metabolism in erythrocyte lysates and sera of patients with osteoarthrosis]
Overweight
High expression of AMPD2 and obesity are associated with poor prognosis in colorectal cancer.
Pancreatitis
Kinetic properties of AMP deaminase in acute experimental pancreatitis.
Paralysis
Effects of growth medium, electrical stimulation and paralysis on various enzyme activities in cultured rat muscle cells. Comparison with activities in rat muscles in vivo.
NUCLEOTIDES AND ADENOSINE MONOPHOSPHATE DEAMINASE ACTIVITY OF MUSCLE IN PRIMARY HYPOKALAEMIC PERIODIC PARALYSIS.
Paraplegia
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Parasitic Diseases
In vivo, attenuation of schistosome cercarial development and disturbance of egg laying capacity in Biomphalaria alexandrina using sublethal concentrations of plant molluscicides.
Perinatal Death
Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression.
Pneumonia
Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate.
Polycystic Kidney, Autosomal Dominant
Super-enhancer-driven metabolic reprogramming promotes cystogenesis in autosomal dominant polycystic kidney disease.
Polymyositis
Molecular analysis of acquired myoadenylate deaminase deficiency in polymyositis (idiopathic inflammatory myopathy).
Prediabetic State
A novel method for testing association of multiple genetic markers with a multinomial trait.
Proteinuria
Proteinuria in AMPD2-deficient mice.
Pulmonary Heart Disease
[The effect of aminophylline on plasma oxypurines in patients with bronchial asthma or cor pulmonale]
Reperfusion Injury
IMP and AMP deaminase in reperfusion injury down-regulates neutrophil recruitment.
Remote reperfusion lung injury is associated with AMP deaminase 3 activation and attenuated by inosine monophosphate.
Rhabdomyolysis
Acute myopathy associated with chronic licorice ingestion: reversible loss of myoadenylate deaminase activity.
Influence on myoadenylate deaminase function in rat skeletal muscle after homologous and heterologous immunization with the purified enzyme.
McArdle disease causing rhabdomyolysis following vaginal delivery.
Myoadenylate deaminase deficiency with severe rhabdomyolysis.
Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency.
Severe rhabdomyolysis caused by Plasmodium vivax malaria in the Brazilian Amazon.
Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency.
Sarcoglycanopathies
Cardiac involvement in primary myopathies.
Sarcoma
Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma.
Scleroderma, Diffuse
Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis.
Scoliosis
Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes.
Sepsis
Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients.
Sickle Cell Trait
Genetic polymorphisms associated with exertional rhabdomyolysis.
Spinal Muscular Atrophies of Childhood
AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies.
Starvation
Activation of trout gill AMP deaminase by an endogenous proteinase--II. Modification of the properties of the enzyme during starvation, pollution and salinity changes.
Adenylic deaminase activity in B-avitaminosis and in starvation.
Amino acid metabolism enzyme activities in the obese Zucker rat.
AMP deaminase in Dictyostelium discoideum: increase in activity following nutrient deprivation induced by starvation or hadacidin.
Distribution of amino acids and amino-acid enzymes in whole kidney and renal cortex. Effect of 24-h starvation.
Effect of 24-hour starvation on amino acid pool composition and enzyme activities of rat brown adipose tissue.
Effect of starvation on catalytic potential of AMP-deaminase in skeletal muscle of the frog Rana hexadactyla Lesson.
Influence of diet and obesity on placental amino acid enzyme activities in the rat.
Regulation of platelet AMP deaminase activity in situ.
Tetanus
Activation of AMP aminohydrolase during skeletal-muscle contraction.
thymidine kinase deficiency
AMP deaminase and thymidine kinase deficiencies in a mutant mouse S49 cell clone.
Thyroid Cancer, Papillary
Expression of serum AMPD1 in thyroid carcinoma and its clinical significance.
Thyroid Neoplasms
Expression of serum AMPD1 in thyroid carcinoma and its clinical significance.
Tooth Abnormalities
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Ventricular Dysfunction
Xanthine oxidoreductase-mediated injury is amplified by upregulated AMP deaminase in type 2 diabetic rat hearts under the condition of pressure overload.
Ventricular Dysfunction, Left
A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction.
Vision Disorders
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Whooping Cough
Adenosine stimulation of AMP deaminase activity in adult rat cardiac myocytes.