Unusual Metabolites in a Patient with Isovaleric Acidemia-Reference-Cited by-同舟云学术

Unusual Metabolites in a Patient with Isovaleric Acidemia

Published:2019-04-01 Issue:4 Volume:65 Page:595-597
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

De Biase Irene¹²,Pasquali Marzia¹²³,Asamoah Alexander⁴

Affiliation:

1. Department of Pathology, University of Utah, Salt Lake City, UT

2. ARUP Laboratories, Salt Lake City, UT

3. Department of Pediatrics, University of Utah, Salt Lake City, UT

4. Department of Pediatrics, University of Louisville, Louisville, KY

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/65/4/595/32638057/clinchem0595.pdf

Reference4 articles.

1. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity;Vockley;Am J Med Genet,2006

2. Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach;Dercksen;Metabolomics,2013

3. New metabolites in isovaleric acidemia;Truscott;Clinica Chimica Acta,1981

4. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening;Ensenauer;Am J Med Genet,2004

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