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Gaucher Disease: New Expanded Classification Emphasizing Neurological Features

Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three types: type 1, without neuropathic findings, type 2...

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Detaylı Bibliyografya
Yayımlandı:Iran J Child Neurol
Asıl Yazarlar: ALAEI, Mohammad Reza, TABRIZI, Aydin, JAFARI, Narjes, MOZAFARI, Hadi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Shahid Beheshti University of Medical Sciences 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6296697/
https://ncbi.nlm.nih.gov/pubmed/30598670
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