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Disease on EC 3.1.6.8 - cerebroside-sulfatase

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DISEASE
TITLE OF PUBLICATION
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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.
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.
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Cranial Nerve Diseases
Isolated cranial nerve enhancement in 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.
Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
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.
Autoreactivity to Sulfatide by Human Invariant NKT Cells.
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.
Cerebroside sulfatase activity in cultivated human skin fibroblasts and amniotic fluid cells;.
Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice.
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Diffuse-disseminated sclerosis combined with partial arylsulfatase A (ASA) deficiency. Mixed heterozygosity of ASA- and pseudo-ASA-deficiency?
Discussion: Metachromatic leukodystrophy, an unusual case with a subtle cerebroside sulfatase defect.
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.
Improved synthesis of [1-14C]acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: usefulness of radioscanning.
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase.
Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy.
Metachromatic leukodystrophy. Treatment with arylsulfatase-A.
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
Metachromatic leukodystrophy: molecular genetics and an animal model.
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Multiple sulfatase deficiency with a novel biochemical presentation.
Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation.
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy.
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
[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.
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
[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.