Maple syrup urine disease: mechanisms and management.

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A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease Impact of pregnancy on inborn errors of metabolism

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Maple syrup urine disease: mechanisms and management.

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2017 nî lūn-bûn

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2017年の論文

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Maple syrup urine disease: mechanisms and management.

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Maple syrup urine disease: mechanisms and management.

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Maple syrup urine disease: mechanisms and management.

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Maple syrup urine disease: mechanisms and management.

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Eric W Klee

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Herjot K Atwal

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Jennifer M Gass

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Kristen M Farnham

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Paldeep S Atwal

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Patrick R Blackburn

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Sarah Macklin

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P2860

Branched-chain amino acids in metabolic signalling and insulin resistance

Branched-chain amino acid metabolism

Branched-chain amino acids: enzyme and substrate regulation.

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Movement disorders in adult surviving patients with maple syrup urine disease.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease.

BCATm deficiency ameliorates endotoxin-induced decrease in muscle protein synthesis and improves survival in septic mice.

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.

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57-66

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scholarly article

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10.2147/TACG.S125962

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Filippo Vairo

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2017-09-06T00:00:00Z

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28919799

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Maple syrup urine disease: mechanisms and management.

about

P2860

P2860

Maple syrup urine disease: mechanisms and management.

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P1476

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