𝔖 Bobbio Scriptorium
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Pseudodeficiency of α-galactosidase A

✍ Scribed by Gideon Bach; Eliezer Rosenmann; Aharon Karni; Tirza Cohen

Book ID
119839387
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
383 KB
Volume
21
Category
Article
ISSN
0009-9163

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Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the gene encoding the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-Gal A; GLA). In two unrelated classically affected males, two alpha-Gal A missense mutations were identified: R112C + D31

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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. The residual