Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease

Author:

Mitsubuchi Hiroshi,Owada Misao,Endo Fumio

Publisher

Oxford University Press (OUP)

Subject

Nutrition and Dietetics,Medicine (miscellaneous)

Reference40 articles.

1. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance;Menkes;Pediatrics,1954

2. Maple syrup urine disease;Westall;Am. J. Dis. Child.,1957

3. Maple syrup urine disease (branched-chain ketoaciduria);Chuang,2001

4. Molecular defects of the branched-chain μ-ketoacid dehydrogenase complex: maple syrup urine disease due to mutation of the E1μ or E1β subunit gene;Indo,1996

5. Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3–L1 cells;Hu;J. Biol. Chem.,1988

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