I型戊二酸血症的生物化学：体外表达的编码人戊二酰辅酶A脱氢酶的野生型和突变型cDNA的活性 - Suppr

Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

作者信息

Liesert M, Zschocke J, Hoffmann G F, Mühlhäuser N, Buckel W

机构信息

Department of Biology, Philipps University Marburg, Germany.

出版信息

J Inherit Metab Dis. 1999 May;22(3):256-8. doi: 10.1023/a:1005525903207.

DOI:10.1023/a:1005525903207

PMID:10384381

Abstract

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Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

J Inherit Metab Dis. 1999 May;22(3):256-8. doi: 10.1023/a:1005525903207.

[Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)].

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CT scans of infants with glutaric aciduria.

Dev Med Child Neurol. 1985 Jun;27(3):403-4. doi: 10.1111/j.1469-8749.1985.tb04559.x.

Subdural hematomas and glutaric aciduria type I.

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Glutaric aciduria type 1 in adulthood.

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Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.

Pediatr Res. 1984 Jul;18(7):663-7. doi: 10.1203/00006450-198407000-00020.

Glutaric aciduria type I: unusual biochemical presentation.

J Pediatr. 1992 Jul;121(1):83-6. doi: 10.1016/s0022-3476(05)82548-x.

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本文引用的文献

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

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Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

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Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase.

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