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Toplam kayıt 4, listelenen: 1-4
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 ...
Scientific Research Supports in Higher Education Institutions
(Ilem, 2017)
The purpose of this research is to examine the scientific research support (BAP) provided by academicians for the purpose of certain criteria. Descriptive screening model and content analysis technique were used in the ...
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, ...
Uncertainty in Higher Education: Being an Academic in the New World Order during and after the Covid-19 Pandemic
(Tuba-Turkish Acad Sciences, 2022)
The purpose of this study is to examine the views of academics on the uncertainty situations created by the Covid-19 pandemic in higher education institutions. Applying the phenomenological method, one of the qualitative ...