Add to ORKGjpen.sagepub.com hosted at online.sagepub.com Case Report Maple syrup urine disease (MSUD) (OMIM 248600) is an inherited disorder in metabolism of the branched-chain amino acids (BCAA), leucine, isoleucine, and valine, caused by defi-cient activity of one of the proteins in the branched-chain α-ketoacid dehydrogenase complex (BCKDC). Plasma and urine concentrations of BCAA and allo-isoleucine are mark-edly increased, and their branched-chain ketoacid analogues appear in urine. The treatment for MSUD is a diet restricted in BCAA that controls these abnormalities. Metabolic crisis char-acterized by ketoacidosis can develop rapidly at any age, pre-cipitated by catabolism due to intercurrent illness, surgery, o
The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MS...
Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a defici...
Maple syrup urine disease is one of a number of cerebro-degenerative conditions, which is caused, di...
jpen.sagepub.com hosted at online.sagepub.com Case Report Maple syrup urine disease (MSUD) (OMIM 248...
Maple syrup urine disease (MSUD) (MIM #248600) is a rare (1:185,000), autosomal recessive disorder o...
Leucinosis (maple syrup urine disease - MSUD) is an inherited aminoacidopathy and organic aciduria c...
© 2023 Wiley Periodicals LLC.Maple syrup urine disease (MSUD) is an inborn error of metabolism cause...
Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder manifested by the impaired c...
Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder caused by severe ...
g.oxfordjournals.org/ D ow nloaded from 2 Branched-chain amino acid (BCAA) metabolism plays a centra...
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme def...
Over the past three decades, we studied 184 individuals with 174 different molecular variants of bra...
Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-ch...
Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Ur...
Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare...
The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MS...
Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a defici...
Maple syrup urine disease is one of a number of cerebro-degenerative conditions, which is caused, di...
jpen.sagepub.com hosted at online.sagepub.com Case Report Maple syrup urine disease (MSUD) (OMIM 248...
Maple syrup urine disease (MSUD) (MIM #248600) is a rare (1:185,000), autosomal recessive disorder o...
Leucinosis (maple syrup urine disease - MSUD) is an inherited aminoacidopathy and organic aciduria c...
© 2023 Wiley Periodicals LLC.Maple syrup urine disease (MSUD) is an inborn error of metabolism cause...
Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder manifested by the impaired c...
Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder caused by severe ...
g.oxfordjournals.org/ D ow nloaded from 2 Branched-chain amino acid (BCAA) metabolism plays a centra...
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme def...
Over the past three decades, we studied 184 individuals with 174 different molecular variants of bra...
Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-ch...
Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Ur...
Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare...
The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MS...
Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a defici...
Maple syrup urine disease is one of a number of cerebro-degenerative conditions, which is caused, di...