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FOUR FAMILIES WITH THE DOMINANT INFANTILE FORM OF OPTIC NERVE ATROPHY

✍ Scribed by C. C. KOK- van ALPHEN

Book ID: 114919865
Publisher: Wiley (Blackwell Publishing)
Year: 2009
Tongue: English
Weight: 512 KB
Volume: 48
Category: Article
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.1970.tb08211.x

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GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the