MAPLE SYRUP URINE DISEASE [PDF]
Developmental Medicine & Child Neurology, 1968 G. W. Hatcher, C E Dent
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Molecular genetics of maple syrup urine disease in the Turkish population
The Turkish Journal of Pediatrics, 2009 In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany +7 more
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Oral health status of children and young adults with maple syrup urine disease in Turkey [PDF]
, 2021 Elif Ballıkaya +5 more
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Hypoglycemia and Maple Syrup Urine Disease: Defective Gluconeogenesis [PDF]
, 1973 Morey W. Haymond +4 more
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Cutaneous Manifestation Maple Syrup Urine Disease: Case Report
Revista FinlayMaple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency.
Gabriel Alejandro Díaz Bernal +2 more
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CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
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Maple Syrup Urine Disease (MSUD) detected in neurologic disorders Iraqi children
Journal of Contemporary Medical Sciences, 2016 Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in the activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched chain amino acids (leucine, isoleucine ...
Adel A. Kareem +2 more
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Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. [PDF]
, 1990 Yoshitaka Nobukuni +5 more
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Studies in Maple Syrup Urine Disease [PDF]
Archives of Disease in Childhood, 1961 C E, DENT, R G, WESTALL
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Oral L-Alloisoleucine Loading Studies in Healthy Subjects and in Patients with Maple Syrup Urine Disease [PDF]
, 1991 Peter Schadewaldt +3 more
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