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Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon
(Galenos Yayincilik, 2019)
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually ...
A New Mutation in Diagnosis of Wolman Disease: Case Report
(Aves, 2019)
Wolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides. It presents with vomiting, diarrhea, poor weight gain, ...