Report of Four Children with Gaucher Disease and Review of Literature
محل انتشار: مجله بین المللی کودکان، دوره: 4، شماره: 8
سال انتشار: 1395
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 320
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شناسه ملی سند علمی:
JR_INJPM-4-8_002
تاریخ نمایه سازی: 20 مهر 1398
چکیده مقاله:
Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnosis of the disease in order to initiate the appropriate therapeutic management to help prevent further progression of the disease.
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نویسندگان
Wajiha Maan
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Children Hospital, Upstate Medical University, Syracuse, New York, U.S.A.
Manoochehr Karjoo
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Children Hospital, Upstate Medical University, Syracuse, New York, U.S.A.
Mirza Beg
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Children Hospital, Upstate Medical University, Syracuse, New York, U.S.A.