𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diagnosis and treatment of childhood mitochondrial diseases

✍ Scribed by Andrea L. Gropman


Book ID
107543064
Publisher
Springer
Year
2001
Tongue
English
Weight
506 KB
Volume
1
Category
Article
ISSN
1528-4042

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## Abstract Fabry disease is an X‐linked lysosomal disorder that results from a deficiency of the lysosomal enzyme α‐galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical man