Inherited metabolic disorders of glycoconjugate metabolism
نویسندگان
چکیده
منابع مشابه
the laboratory diagnosis of inherited metabolic disorders
diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...
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INTRODUCTION Advances in the early diagnosis and treatment have led to improved survival, and a better quality of life for patients with inherited metabolic disorders (IMD). They can go to the Pediatric Emergency Services (PES) for reasons unrelated to their disease. The purpose of this study was to review the characteristics of visitors to the PES of these patients in a tertiary hospital. MA...
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ژورنال
عنوان ژورنال: Bratislava Medical Journal
سال: 2020
ISSN: 1336-0345
DOI: 10.4149/bll_2020_124