कवर छवि

Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time....

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ग्रंथसूची विवरण
मुख्य लेखक:	Jia-Woei Hou (लेखक)
स्वरूप:	पुस्तक
प्रकाशित:	Elsevier, 2016-10-01T00:00:00Z.
विषय:	article
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