Literature DB >> 7528828

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

E Christensen1, N J Brandt, T Rosenberg, K Bömers, C Jakobs.   

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Year:  1994        PMID： 7528828     DOI： 10.1007/bf00711809

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  [Refsum's disease. Hereditary atactic polyneuritis].

Authors:  N J Brandt; E Christensen; T Rosenberg
Journal:  Ugeskr Laeger       Date:  1989-02-06

2.  Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.

Authors:  E Christensen
Journal:  Clin Chim Acta       Date:  1983-03-28       Impact factor: 3.786

3.  Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography.

Authors:  F Stellaard; S A Langelaar; R M Kok; C Jakobs
Journal:  J Lipid Res       Date:  1989-10       Impact factor: 5.922

4.  Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

Authors:  R B Schutgens; G J Romeyn; R Ofman; H van den Bosch; J M Tager; R J Wanders
Journal:  Biochim Biophys Acta       Date:  1986-12-05

5.  Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.

Authors:  N Amir; O N Elpeleg; R S Shalev; E Christensen
Journal:  J Pediatr       Date:  1989-06       Impact factor: 4.406

6.  Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

Authors:  D H Morton; M J Bennett; L E Seargeant; C A Nichter; R I Kelley
Journal:  Am J Med Genet       Date:  1991-10-01

7.  Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

Authors:  H J ten Brink; F Stellaard; C M van den Heuvel; R M Kok; D S Schor; R J Wanders; C Jakobs
Journal:  J Lipid Res       Date:  1992-01       Impact factor: 5.922

8.  Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.

Authors:  E Christensen; B B Jacobsen; N Gregersen; H Hjeds; J B Pedersen; N J Brandt; U B Baekmark
Journal:  Clin Chim Acta       Date:  1981-11-11       Impact factor: 3.786
  8 in total
  1 in total

1.  Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

Authors:  E Christensen; A Ribes; C Busquets; M Pineda; M Duran; B T Poll-The; C R Greenberg; H Leffers; M Schwartz
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982
  1 in total

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