Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

Published:2004-11 Issue:6 Volume:27 Page:861-868
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Christensen E.¹,Ribes A.²,Merinero B.³,Zschocke J.⁴

Affiliation:

1. Department of Clinical Genetics; Rigshospitalet, Copenhagen Denmark

2. ; Institut de Bioquimica Clinica; CDB, Corporació Sanitària Clínic; Barcelona Spain

3. ; Centro de Diagnóstico de Enfermedades Moleculares; Universidad Autónoma; Madrid Spain

4. ; Institute of Human Genetics; University of Heidelberg; Heidelberg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000045770.93429.3c/fullpdf

Reference17 articles.

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2. Age a symptomonse predicts severi y of mo or impairmen and clinical outcome of glutaric acidemia ype I;Bjugstad;JPedatr,2000

3. Glutaryl-CoA dehydrogenase deficiency in Spain:evidence of two groups of patients, genetically and biochemically distinct;Busquets;Pediatr Res,2000

4. Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver:application o glu aric aciduria ype I;Christensen;Clin Chim Acta,1983

5. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion;Christensen;J Inhert Metab Dis,1997

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