So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient-Reference-Cited by-同舟云学术

So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient

Published:1985-11 Issue:5 Volume:107 Page:763-765
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Scriver Charles R.,Clow Carol L.,George Henry

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference7 articles.

1. Thiamine-responsive maple-syrup urine disease;Scriver;Lancet,1971

2. Outcome of early and long-term management of classical maple syrup urine disease;Clow;Pediatrics,1981

3. Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease;Lancaster;Metabolism,1974

4. Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant-branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate;Chuang,1982

5. Heterogeneity of leucinosis: correlations between clinical manifestations, protein tolerance and enzyme deficiency;Saudubray;Arch Fr Pediatr,1982

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2. Branched Chain Amino Acids and Maple Syrup Urine Disease;Branched Chain Amino Acids in Clinical Nutrition;2015

3. Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach;Molecular Genetics and Metabolism;2014-07

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