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Type 1 Gaucher Disease: Phenotypic Expression and Natural History in Japanese Patients

✍ Scribed by Hiroyuki Ida; Owen M Rennert; Takeru Ito; Kihei Maekawa; Yoshikatsu Eto

Book ID
115589914
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
90 KB
Volume
24
Category
Article
ISSN
1079-9796

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Communicated by William S. Sly Gaucher disease is the most prevalent sphingolipidosis, characterized by genetic deficiency of lysosomal hydrolase glucocerebrosidase, and is inherited in an autosomal recessive manner. To characterize the molecular basis of Gaucher disease in Japan, we analyzed for th