Results 221 to 230 of about 26,062 (264)
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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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Ophthalmoplegia in maple syrup urine disease
The Journal of Pediatrics, 1974John M. Freeman +2 more
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Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
Molecular Genetics and Metabolism, 2021Jenny Greig +7 more
semanticscholar +1 more source