Results 161 to 170 of about 2,405 (204)

Cloning and Characterization of a Novel N-Acetyl-D-galactosamine-4-O-sulfate Sulfatase, SulA1, from a Marine Arthrobacter Strain. [PDF]

open access: yesMar Drugs
Christensen MD   +8 more
europepmc   +1 more source

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series. [PDF]

open access: yesCommun Med (Lond)
Pillai NR   +12 more
europepmc   +1 more source
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Arylsulfatase A in pseudodeficiency

Human Genetics, 1984
Arylsulfatase A (ASA) is found to be deficient in healthy individuals (pseudo arylsulfatase A deficiency) who usually show in vitro ASA levels in the range of metachromatic leukodystrophy patients. The in vitro properties of ASA in pseudodeficiency were studied in cultured fibroblasts.
B, Herz, G, Bach
openaire   +2 more sources

Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency

Molecular and Cellular Biochemistry, 1990
Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this phenotype is associated with a structural gene mutation
M, Ameen   +4 more
openaire   +2 more sources

Arylsulfatase A pseudodeficiency in Chinese

Human Genetics, 1996
Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone.
W L, Hwu   +5 more
openaire   +2 more sources

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