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The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

Aim:Gaucher disease (GD) is the most prevalent hereditary lysosomal storage disorder, affecting multiple organ systems. It is characterized by a deficiency of the enzyme glucocerebrosidase leading to an accumulation of glucosylceramide in lysosomes. The majority of patients present with hepatospleno...

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Hlavní autoři: Çiğdem Seher Kasapkara, Asburçe Olgaç, İlyas Okur, Fatih Süheyl Ezgu, Leyla Tümer
Médium: Artigo
Jazyk:Inglês
Vydáno: Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation 2021-09-01
Edice:Journal of Pediatric Research
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On-line přístup: http://jpedres.org/archives/archive-detail/article-preview/the-evaluation-of-skeletal-manifestations-in-patie/48640
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