Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

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Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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Silico analysis of a novel mut ...... with maple syrup urine disease

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Silico analysis of a novel mut ...... with maple syrup urine disease

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Silico analysis of a novel mut ...... with maple syrup urine disease

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Silico analysis of a novel mut ...... with maple syrup urine disease

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Silico analysis of a novel mut ...... with maple syrup urine disease

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Silico analysis of a novel mut ...... with maple syrup urine disease

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P1476

Silico analysis of a novel mut ...... with maple syrup urine disease

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P2093

Caijuan Wang

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Hongqin Wang

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Jinfeng Lv

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Mei Wang

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Weiqing Wang

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Wenjie Li

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Yanan Lv

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Yingmei Sun

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P2860

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease

Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation

Gene preference in maple syrup urine disease.

Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.

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

Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

Classical maple syrup urine disease and brain development: principles of management and formula design

Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.

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1989-1993

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scholarly article

case report

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10.1002/CCR3.1774

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English

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P478

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P50

X Meng

Dongpo Song

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2018-09-03T00:00:00Z

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30349713

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6186878

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