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Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

✍ Scribed by Numata, Yurika; Gotoh, Leo; Iwaki, Akiko; Kurosawa, Kenji; Takanashi, Jun-ichi; Deguchi, Kimiko; Yamamoto, Toshiyuki; Osaka, Hitoshi; Inoue, Ken

Book ID
121550543
Publisher
Springer
Year
2014
Tongue
English
Weight
250 KB
Volume
261
Category
Article
ISSN
0340-5354

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Galactocerebrosidase (GALC) is a lysosomal b-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is also call