Disease on EC 3.1.6.8 - cerebroside-sulfatase
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Adrenoleukodystrophy
Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases.
arylsulfatase (type i) deficiency
Multiple sulfatase deficiency with a novel biochemical presentation.
arylsulfatase (type i) deficiency
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
Breast Diseases
Evaluation of leukocyte arylsulfatase-A activity in patients with breast cancer and benign breast disease.
Breast Neoplasms
Evaluation of leukocyte arylsulfatase-A activity in patients with breast cancer and benign breast disease.
Cerebral Palsy
Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy.
cerebroside-sulfatase deficiency
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
cerebroside-sulfatase deficiency
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
cerebroside-sulfatase deficiency
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
cerebroside-sulfatase deficiency
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Demyelinating Diseases
Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency.
Gait Disorders, Neurologic
Isolated cranial nerve enhancement in metachromatic leukodystrophy.
Leukodystrophy, Globoid Cell
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.
Leukodystrophy, Metachromatic
A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.
Leukodystrophy, Metachromatic
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Leukodystrophy, Metachromatic
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Leukodystrophy, Metachromatic
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Cerebroside sulfatase activity in cultivated human skin fibroblasts and amniotic fluid cells;.
Leukodystrophy, Metachromatic
Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice.
Leukodystrophy, Metachromatic
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Leukodystrophy, Metachromatic
Diffuse-disseminated sclerosis combined with partial arylsulfatase A (ASA) deficiency. Mixed heterozygosity of ASA- and pseudo-ASA-deficiency?
Leukodystrophy, Metachromatic
Discussion: Metachromatic leukodystrophy, an unusual case with a subtle cerebroside sulfatase defect.
Leukodystrophy, Metachromatic
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.
Leukodystrophy, Metachromatic
Improved synthesis of [1-14C]acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: usefulness of radioscanning.
Leukodystrophy, Metachromatic
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
Leukodystrophy, Metachromatic
Metachromatic leukodystrophy: molecular genetics and an animal model.
Leukodystrophy, Metachromatic
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Leukodystrophy, Metachromatic
Multiple sulfatase deficiency with a novel biochemical presentation.
Leukodystrophy, Metachromatic
Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation.
Leukodystrophy, Metachromatic
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Leukodystrophy, Metachromatic
Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.
Leukodystrophy, Metachromatic
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
Leukodystrophy, Metachromatic
The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy.
Leukodystrophy, Metachromatic
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
Leukodystrophy, Metachromatic
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
Leukodystrophy, Metachromatic
[Problems in the diagnosis of metachromatic leukodystrophy by arylsulfatase-A assay in white blood cells. Genetic study of normal enzyme values in 64 mother and child pairs (author's transl)]
Lysosomal Storage Diseases
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Lysosomal Storage Diseases
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Lysosomal Storage Diseases
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
Multiple Sclerosis
Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency with a novel biochemical presentation.
Neoplasms
Determination of diagnostic and prognostic values of urinary interleukin-8, tumor necrosis factor-alpha, and leukocyte arylsulfatase-A activity in patients with bladder cancer.
Neurodegenerative Diseases
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Urinary Bladder Neoplasms
Determination of diagnostic and prognostic values of urinary interleukin-8, tumor necrosis factor-alpha, and leukocyte arylsulfatase-A activity in patients with bladder cancer.
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