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متن کاملMaple syrup urine disease
Maple syrup urine disease (MSUD) is an autosomal recessive condition with an incidence of approximately 1 in 150 000 live births with a higher incidence amongst children from consanguineous relationships [1]. It is caused by an enzymatic deficiency with reduction in oxidative decarboxylation of branched-chain amino acids (BCAA) (leucine, isoleucine and valine) resulting in elevated levels and t...
متن کاملMaple Syrup Urine Disease
Alternative Names MSUD Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency BCKD Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Thiamine-Responsive Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis Maple Syrup Uri...
متن کامل[Maple syrup urine disease].
Branched chain a-ketoacid dehydrogenase (BCKDH) deficiency results in maple syrup urine disease (MSUD). We examined the molecular basis of familial cases ofMSUD by analyzing the activity, subunit structure, mRNA sequence, and genome structure of the affected enzyme. The BCKDH activity in the proband with MSUD was 6% ofthe normal control level. Immunoblot analysis revealed that the ElB subunit o...
متن کاملAdaptive Workflows with Syrup
Syrup is an adaptive Workflow system with a difference. Like any other Workflow solution, Syrup can be used to describe the tasks, procedural steps, required input and output information and tools needed for each step in a business process [1]. To be able to do this, Syrup provides five basic concepts: Tasks, Links, Workflows, Workers and the WorkSpace. Additionally, the minimal core is build i...
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ژورنال
عنوان ژورنال: The Journal of the American Pharmaceutical Association (1912)
سال: 1914
ISSN: 0898-140X
DOI: 10.1002/jps.3080030218