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The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.

作者信息

Christensen E, Brandt N J, Rosenberg T, Bömers K, Jakobs C

机构信息

University Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.

出版信息

J Inherit Metab Dis. 1994;17(3):287-90. doi: 10.1007/BF00711809.

DOI:10.1007/BF00711809
PMID:7528828
Abstract
摘要

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引用本文的文献

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Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
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本文引用的文献

1
Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.
Clin Chim Acta. 1981 Nov 11;116(3):331-41. doi: 10.1016/0009-8981(81)90052-8.
2
Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.培养细胞和肝脏中戊二酰辅酶A脱氢酶检测方法的改进：应用于I型戊二酸尿症
Clin Chim Acta. 1983 Mar 28;129(1):91-7. doi: 10.1016/0009-8981(83)90155-9.
3
Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.人皮肤成纤维细胞中的酰基辅酶A：磷酸二羟丙酮酰基转移酶：使用新检测方法对其特性的研究
Biochim Biophys Acta. 1986 Dec 5;879(3):286-91. doi: 10.1016/0005-2760(86)90217-1.
4
Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.
J Pediatr. 1989 Jun;114(6):983-9. doi: 10.1016/s0022-3476(89)80442-1.
5
Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography.毛细管气液色谱-电子捕获负化学电离质谱碎片分析法测定血浆胆汁酸
J Lipid Res. 1989 Oct;30(10):1647-52.
6
[Refsum's disease. Hereditary atactic polyneuritis].
Ugeskr Laeger. 1989 Feb 6;151(6):368-71.
7
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.I型戊二酸尿症：宾夕法尼亚州兰开斯特县阿米什人群发作性脑病和痉挛性瘫痪的常见病因。
Am J Med Genet. 1991 Oct 1;41(1):89-95. doi: 10.1002/ajmg.1320410122.
8
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.
J Lipid Res. 1992 Jan;33(1):41-7.