Results 201 to 210 of about 5,966 (238)

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, S. Mackenzie, E. Delvin, Charles R. Scriver   +3 more
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, Isabela da Silva Lemos, H. Farias, Marina Peyrot Rosso, P. S. Effting, G. Leipnitz, E. Streck   +6 more
semanticscholar   +1 more source

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

Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids

Neurochemistry International, 2022
A. U. Amaral, M. Wajner
semanticscholar   +1 more source

MAPLE SYRUP URINE DISEASE

Journal of Intellectual Disability Research, 1967
J. T. Ireland, L. Crome, J. N. Montgomery, M. A. Voyce, J. K. Bowman   +4 more
openaire   +5 more sources

Imaging in Maple Syrup Urine Disease

The Indian Journal of Pediatrics, 2018
Tanay Shah, Sunita Purohit, Mrudang Raval   +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

Ophthalmoplegia in maple syrup urine disease

The Journal of Pediatrics, 1974
John M. Freeman, David S. Zee, Neil A. Holtzman   +2 more
openaire   +3 more sources

Maple syrup urine disease

2023
openaire   +1 more source

Maple-Syrup-Urine Disease

New England Journal of Medicine, 1983
I. Lombeck, U Wendel, H.J. Bremer
openaire   +2 more sources