2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/1667952/ Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. causal interaction 4 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/194412/ [Phosphoribosyl pyrophosphate and its metabolic enzymes in the erythrocytes in certain forms of anemia] diagnostic usage 1 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/1667952/ Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. therapeutic application 3 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/5022715/ Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency. ongoing research 1 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/194412/ [Phosphoribosyl pyrophosphate and its metabolic enzymes in the erythrocytes in certain forms of anemia] ongoing research 3 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/5022715/ Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency. unassigned - 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/194412/ [Phosphoribosyl pyrophosphate and its metabolic enzymes in the erythrocytes in certain forms of anemia] unassigned - 2.7.6.2 Anemia https://pubmed.ncbi.nlm.nih.gov/1667952/ Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. unassigned - 2.7.6.2 Anemia, Hemolytic https://pubmed.ncbi.nlm.nih.gov/5022715/ Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency. ongoing research 1 2.7.6.2 Anemia, Hemolytic https://pubmed.ncbi.nlm.nih.gov/4713623/ Nonspherocytic haemolytic anaemia with increased red cell adenine nucleotides, glutathione and basophilic stippling and ribosephosphate pyrophosphokinase (RPK) deficiency: studies on two new kindreds. unassigned - 2.7.6.2 Anemia, Hemolytic https://pubmed.ncbi.nlm.nih.gov/5022715/ Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency. unassigned - 2.7.6.2 Anemia, Hemolytic https://pubmed.ncbi.nlm.nih.gov/6251690/ Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase. unassigned - 2.7.6.2 Anemia, Hemolytic https://pubmed.ncbi.nlm.nih.gov/10916681/ Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later. unassigned - 2.7.6.2 Anemia, Megaloblastic https://pubmed.ncbi.nlm.nih.gov/8394635/ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. causal interaction 2 2.7.6.2 Anemia, Megaloblastic https://pubmed.ncbi.nlm.nih.gov/1326679/ Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia. unassigned - 2.7.6.2 Anemia, Megaloblastic https://pubmed.ncbi.nlm.nih.gov/8394635/ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. unassigned - 2.7.6.2 Avitaminosis https://pubmed.ncbi.nlm.nih.gov/6121420/ [Enzyme activity of thiamine diphosphate biosynthesis and degradation in the mouse liver in the dynamics of B1 avitaminosis development] ongoing research 1 2.7.6.2 Avitaminosis https://pubmed.ncbi.nlm.nih.gov/6121420/ [Enzyme activity of thiamine diphosphate biosynthesis and degradation in the mouse liver in the dynamics of B1 avitaminosis development] unassigned - 2.7.6.2 Brain Diseases https://pubmed.ncbi.nlm.nih.gov/33086386/ Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. causal interaction 4 2.7.6.2 Brain Diseases https://pubmed.ncbi.nlm.nih.gov/33086386/ Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. unassigned - 2.7.6.2 Carcinoma https://pubmed.ncbi.nlm.nih.gov/6127634/ Thiamine metabolism in the liver of mice with Ehrlich ascites carcinoma. ongoing research 1 2.7.6.2 Carcinoma https://pubmed.ncbi.nlm.nih.gov/6127634/ Thiamine metabolism in the liver of mice with Ehrlich ascites carcinoma. unassigned - 2.7.6.2 Carcinoma, Hepatocellular https://pubmed.ncbi.nlm.nih.gov/6091867/ Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas. causal interaction 3 2.7.6.2 Carcinoma, Hepatocellular https://pubmed.ncbi.nlm.nih.gov/6091867/ Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas. diagnostic usage 3 2.7.6.2 Carcinoma, Hepatocellular https://pubmed.ncbi.nlm.nih.gov/6091867/ Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas. ongoing research 2 2.7.6.2 Carcinoma, Hepatocellular https://pubmed.ncbi.nlm.nih.gov/6091867/ Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas. unassigned - 2.7.6.2 Cardiotoxicity https://pubmed.ncbi.nlm.nih.gov/25316705/ Examination of the effects of thiamine and thiamine pyrophosphate on Doxorubicin-induced experimental cardiotoxicity. therapeutic application 1 2.7.6.2 Cardiotoxicity https://pubmed.ncbi.nlm.nih.gov/25316705/ Examination of the effects of thiamine and thiamine pyrophosphate on Doxorubicin-induced experimental cardiotoxicity. ongoing research 2 2.7.6.2 Cardiotoxicity https://pubmed.ncbi.nlm.nih.gov/25316705/ Examination of the effects of thiamine and thiamine pyrophosphate on Doxorubicin-induced experimental cardiotoxicity. unassigned - 2.7.6.2 Deafness https://pubmed.ncbi.nlm.nih.gov/8394635/ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. causal interaction 2 2.7.6.2 Deafness https://pubmed.ncbi.nlm.nih.gov/8394635/ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. unassigned - 2.7.6.2 Diabetes Mellitus https://pubmed.ncbi.nlm.nih.gov/8394635/ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. causal interaction 2 2.7.6.2 Diabetes Mellitus https://pubmed.ncbi.nlm.nih.gov/8394635/ Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. unassigned - 2.7.6.2 Leigh Disease https://pubmed.ncbi.nlm.nih.gov/27896076/ Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. causal interaction 3 2.7.6.2 Leigh Disease https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. causal interaction 2 2.7.6.2 Leigh Disease https://pubmed.ncbi.nlm.nih.gov/27896076/ Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. therapeutic application 2 2.7.6.2 Leigh Disease https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. therapeutic application 1 2.7.6.2 Leigh Disease https://pubmed.ncbi.nlm.nih.gov/27896076/ Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. unassigned - 2.7.6.2 Leigh Disease https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. unassigned - 2.7.6.2 Malaria https://pubmed.ncbi.nlm.nih.gov/7925353/ Sequence variation of the hydroxymethyldihydropterin pyrophosphokinase: dihydropteroate synthase gene in lines of the human malaria parasite, Plasmodium falciparum, with differing resistance to sulfadoxine. causal interaction 3 2.7.6.2 Malaria https://pubmed.ncbi.nlm.nih.gov/7925353/ Sequence variation of the hydroxymethyldihydropterin pyrophosphokinase: dihydropteroate synthase gene in lines of the human malaria parasite, Plasmodium falciparum, with differing resistance to sulfadoxine. therapeutic application 4 2.7.6.2 Malaria https://pubmed.ncbi.nlm.nih.gov/17132104/ The human malaria parasite Plasmodium falciparum expresses an atypical N-terminally extended pyrophosphokinase with specificity for thiamine. therapeutic application 3 2.7.6.2 Malaria https://pubmed.ncbi.nlm.nih.gov/7925353/ Sequence variation of the hydroxymethyldihydropterin pyrophosphokinase: dihydropteroate synthase gene in lines of the human malaria parasite, Plasmodium falciparum, with differing resistance to sulfadoxine. ongoing research 4 2.7.6.2 Malaria https://pubmed.ncbi.nlm.nih.gov/17132104/ The human malaria parasite Plasmodium falciparum expresses an atypical N-terminally extended pyrophosphokinase with specificity for thiamine. unassigned - 2.7.6.2 Malaria https://pubmed.ncbi.nlm.nih.gov/7925353/ Sequence variation of the hydroxymethyldihydropterin pyrophosphokinase: dihydropteroate synthase gene in lines of the human malaria parasite, Plasmodium falciparum, with differing resistance to sulfadoxine. unassigned - 2.7.6.2 Microcephaly https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. causal interaction 2 2.7.6.2 Microcephaly https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. therapeutic application 1 2.7.6.2 Microcephaly https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. unassigned - 2.7.6.2 Movement Disorders https://pubmed.ncbi.nlm.nih.gov/33031988/ Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. causal interaction 4 2.7.6.2 Movement Disorders https://pubmed.ncbi.nlm.nih.gov/33031988/ Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. unassigned - 2.7.6.2 Neoplasms https://pubmed.ncbi.nlm.nih.gov/25386891/ [Extracting and study of biochemical properties of thiamine pyrophosphokinase from non-malignant and tumor tissue of myometrium]. causal interaction 1 2.7.6.2 Neoplasms https://pubmed.ncbi.nlm.nih.gov/25386891/ [Extracting and study of biochemical properties of thiamine pyrophosphokinase from non-malignant and tumor tissue of myometrium]. therapeutic application 1 2.7.6.2 Neoplasms https://pubmed.ncbi.nlm.nih.gov/25386891/ [Extracting and study of biochemical properties of thiamine pyrophosphokinase from non-malignant and tumor tissue of myometrium]. ongoing research 3 2.7.6.2 Neoplasms https://pubmed.ncbi.nlm.nih.gov/6127634/ Thiamine metabolism in the liver of mice with Ehrlich ascites carcinoma. ongoing research 1 2.7.6.2 Neoplasms https://pubmed.ncbi.nlm.nih.gov/6127634/ Thiamine metabolism in the liver of mice with Ehrlich ascites carcinoma. unassigned - 2.7.6.2 Neoplasms https://pubmed.ncbi.nlm.nih.gov/25386891/ [Extracting and study of biochemical properties of thiamine pyrophosphokinase from non-malignant and tumor tissue of myometrium]. unassigned - 2.7.6.2 Nervous System Diseases https://pubmed.ncbi.nlm.nih.gov/25458521/ Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. causal interaction 4 2.7.6.2 Nervous System Diseases https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. causal interaction 2 2.7.6.2 Nervous System Diseases https://pubmed.ncbi.nlm.nih.gov/25458521/ Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. therapeutic application 1 2.7.6.2 Nervous System Diseases https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. therapeutic application 1 2.7.6.2 Nervous System Diseases https://pubmed.ncbi.nlm.nih.gov/25458521/ Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. unassigned - 2.7.6.2 Nervous System Diseases https://pubmed.ncbi.nlm.nih.gov/28706281/ Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata. unassigned - 2.7.6.2 Neurodegenerative Diseases https://pubmed.ncbi.nlm.nih.gov/33231275/ Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. causal interaction 4 2.7.6.2 Neurodegenerative Diseases https://pubmed.ncbi.nlm.nih.gov/33231275/ Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. unassigned - 2.7.6.2 Pneumonia, Pneumocystis https://pubmed.ncbi.nlm.nih.gov/15531210/ Cloning of the Pneumocystis jirovecii trifunctional FAS gene and complementation of its DHPS activity in Escherichia coli. ongoing research 2 2.7.6.2 Pneumonia, Pneumocystis https://pubmed.ncbi.nlm.nih.gov/15531210/ Cloning of the Pneumocystis jirovecii trifunctional FAS gene and complementation of its DHPS activity in Escherichia coli. unassigned - 2.7.6.2 Thiamine Deficiency https://pubmed.ncbi.nlm.nih.gov/8619543/ Brain thiamine, its phosphate esters, and its metabolizing enzymes in Alzheimer's disease. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/1667952/ Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. causal interaction 4 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/22152682/ Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. causal interaction 3 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/30789823/ Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing. causal interaction 3 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/25458521/ Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. causal interaction 4 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33031988/ Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. causal interaction 4 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33231275/ Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. causal interaction 4 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/27896076/ Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. causal interaction 3 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33565067/ [Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency]. causal interaction 4 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/1667952/ Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. therapeutic application 3 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/25458521/ Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. therapeutic application 1 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/27896076/ Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. therapeutic application 2 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33565067/ [Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency]. ongoing research 1 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/1667952/ Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/22152682/ Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/30789823/ Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/25458521/ Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33031988/ Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33231275/ Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/27896076/ Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. unassigned - 2.7.6.2 thiamine diphosphokinase deficiency https://pubmed.ncbi.nlm.nih.gov/33565067/ [Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency]. unassigned -