Results 131 to 140 of about 22,707 (178)
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Transplantation, 2019
Background. Data describing the technical aspects of living donor (LD) domino liver transplantation (DLT) in maple syrup urine disease (MSUD) are limited. The largest published series includes only 3 cases.
Karina M. O. Roda+12 more
semanticscholar +1 more source
Background. Data describing the technical aspects of living donor (LD) domino liver transplantation (DLT) in maple syrup urine disease (MSUD) are limited. The largest published series includes only 3 cases.
Karina M. O. Roda+12 more
semanticscholar +1 more source
Maple syrup urine disease 1954 to 1993
Journal of Inherited Metabolic Disease, 1993SummaryThe clinical, molecular genetic and other biochemical aspects of branched‐chain α‐ketoacid dehydrogenase defects are reviewed.
D. J. Danner, Frank Peinemann
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THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE
The Lancet, 1971Abstract The rare inborn errors of metabolism are likely to be genetically heterogeneous. A new form of maple-syrup-urine disease in which the hyperaminoacidaemia is completely corrected by thiamine hydrochloride (10 mg. per day) without recourse to dietary restriction, illustrates this hypothesis.
CarolL. Clow+3 more
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Animal models of maple syrup urine disease
Journal of Inherited Metabolic Disease, 2009SummaryMaple syrup urine disease (MSUD) is an inherited aminoacidopathy resulting from dysfunction of the branched‐chain keto acid dehydrogenase (BCKDH) complex. This disease is currently treated primarily by dietary restriction of branched‐chain amino acids (BCAAs). However, dietary compliance is often challenging.
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Onconephrology: The intersections between the kidney and cancer
Ca-A Cancer Journal for Clinicians, 2021Mitchell H Rosner+2 more
exaly
Imaging in Maple Syrup Urine Disease
The Indian Journal of Pediatrics, 2018Tanay Shah+2 more
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Ophthalmoplegia in maple syrup urine disease
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2003Darrel Waggoner, Balaji Gupta
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