Results 131 to 140 of about 22,707 (178)
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Domino Liver Transplant in Maple Syrup Urine Disease: Technical Details of Cases in Which the First Surgery Involved a Living Donor

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

Maple syrup urine disease 1954 to 1993

Journal of Inherited Metabolic Disease, 1993
SummaryThe clinical, molecular genetic and other biochemical aspects of branched‐chain α‐ketoacid dehydrogenase defects are reviewed.
D. J. Danner, Frank Peinemann
openaire   +3 more sources

Branched-chain amino acids (BCAA) administration increases autophagy and the autophagic pathway in brain tissue of rats submitted to a Maple Syrup Urine Disease (MSUD) protocol

Metabolic brain disease, 2022
Karoline Teixeira Fermo   +6 more
semanticscholar   +1 more source

THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE

The Lancet, 1971
Abstract 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
openaire   +3 more sources

Animal models of maple syrup urine disease

Journal of Inherited Metabolic Disease, 2009
SummaryMaple 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.
openaire   +3 more sources

MAPLE SYRUP URINE DISEASE

Journal of Intellectual Disability Research, 1967
J. T. Ireland   +4 more
openaire   +5 more sources

Onconephrology: The intersections between the kidney and cancer

Ca-A Cancer Journal for Clinicians, 2021
Mitchell H Rosner   +2 more
exaly  

Imaging in Maple Syrup Urine Disease

The Indian Journal of Pediatrics, 2018
Tanay Shah   +2 more
openaire   +3 more sources

Ophthalmoplegia in maple syrup urine disease

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2003
Darrel Waggoner, Balaji Gupta
openaire   +3 more sources

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