Diagnosis and management of glutaric aciduria type I – revised recommendations-Reference-Cited by-同舟云学术

Diagnosis and management of glutaric aciduria type I – revised recommendations

Published:2011-03-23 Issue:3 Volume:34 Page:677-694
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kölker Stefan,Christensen Ernst,Leonard James V.,Greenberg Cheryl R.,Boneh Avihu,Burlina Alberto B.,Burlina Alessandro P.,Dixon Marjorie,Duran Marinus,García Cazorla Angels,Goodman Stephen I.,Koeller David M.,Kyllerman Mårten,Mühlhausen Chris,Müller Edith,Okun Jürgen G.,Wilcken Bridget,Hoffmann Georg F.,Burgard Peter

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-011-9289-5

Reference98 articles.

1. Al-Dirbashi OY, Jacob M, Al-Amoudi M, Al-Odaib A, Al-Kahtani, El-Badaoui F, Rashed MS (2005) Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization. Clin Chim Acta 359:179–188

2. Bähr O, Mader I, Zschocke J, Dichgans J, Schulz JB (2002) Adult onset glutaric aciduria type I presenting with leukoencephalopathy. Neurology 59:1802–1804

3. 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

4. Barry MJ, VanSwearingen JM, Albright AL (1999) Reliability and responsiveness of the Barry-Albright Dystonia Scale. Dev Med Child Neurol 41:404–411

5. Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J (2006) Glutaric academia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab 88:90–92

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