Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)-Reference-Cited by-同舟云学术

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

Published:2007-01-03 Issue:1 Volume:30 Page:5-22
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kölker S.,Christensen E.,Leonard J. V.,Greenberg C. R.,Burlina A. B.,Burlina A. P.,Dixon M.,Duran M.,Goodman S. I.,Koeller D. M.,Müller E.,Naughten E. R.,Neumaier-Probst E.,Okun J. G.,Kyllerman M.,Surtees R. A.,Wilcken B.,Hoffmann G. F.,Burgard P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-006-0451-4

Reference67 articles.

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2. Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF (1999) Sensitivity of free and total glutaric and 3-hydroxyglutaric acid measurement by stable isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22: 867–882.

3. Bennett MJ, Marlow N, Pollitt RJ, Wales JK (1986) Glutaric aciduria type 1: biochemical investigations and post mortem findings. Eur J Pediatr 145: 403–405.

4. Bjugstad KB, Goodman SI, Freed CR (2000) Age at symptom onset predicts severity of motor impairment and clinical onset of glutaric aciduria type I. J Pediatr 137: 681–686.

5. Brandt NJ, Gregersen N, Christensen E, Gron ICH, Rasmussen K (1979) Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). J Pediatr 94: 669–673.

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