Inherited metabolic disorders involving the eye: a clinico-biochemical perspective
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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ژورنال
عنوان ژورنال: Eye
سال: 2009
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.2009.229