Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.
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Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenaseProduction and characterization of murine models of classic and intermediate maple syrup urine diseaseBCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal CancerMaple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.Defects of thiamine transport and metabolism.Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease."Classical organic acidurias": diagnosis and pathogenesis.Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGHHeterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: a case report.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
P2860
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P2860
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.
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2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
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2004年学术文章
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2004年學術文章
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name
Structural and biochemical bas ...... thiamin-responsive phenotype.
@en
Structural and biochemical bas ...... thiamin-responsive phenotype.
@nl
type
label
Structural and biochemical bas ...... thiamin-responsive phenotype.
@en
Structural and biochemical bas ...... thiamin-responsive phenotype.
@nl
prefLabel
Structural and biochemical bas ...... thiamin-responsive phenotype.
@en
Structural and biochemical bas ...... thiamin-responsive phenotype.
@nl
P2093
P2860
P356
P1476
Structural and biochemical bas ...... e thiamin-responsive phenotype
@en
P2093
Clint C Moss
David T Chuang
Hanna Mandel
Jacinta L Chuang
Jiu-Li Song
Nibal Awad
P2860
P304
17792-17800
P356
10.1074/JBC.M313879200
P407
P577
2004-01-23T00:00:00Z