Maple Syrup Urine Disease: Newborn Screening Fails to Discriminate between Classic and Variant Forms-Reference-Cited by-同舟云学术

Maple Syrup Urine Disease: Newborn Screening Fails to Discriminate between Classic and Variant Forms

Published:2008-10-01 Issue:10 Volume:54 Page:1739-1741
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Fingerhut Ralph¹,Simon Eva²,Maier Esther M³,Hennermann Julia B⁴,Wendel Udo²

Affiliation:

1. Laboratory Becker, Olgemöller and Colleagues, Munich, Germany

2. Department of General Pediatrics University Children’s Hospital, Heinrich-Heine-University, Düsseldorf, Germany

3. Research Center, Departement of Biochemical Genetics and Molecular Biology, von Hauner Children’s Hospital, Ludwig-Maximilians-Universität, Munich, Germany

4. Otto-Heubner-Center for Pediatric and Adolescent Medicine, Charité University Medical Center, Berlin, Germany

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/54/10/1739/32672803/clinchem1739.pdf

Reference5 articles.

1. Variant maple syrup urine disease (MSUD)—The entire spectrum

2. Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease

3. Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

4. Significance of l-Alloisoleucine in Plasma for Diagnosis of Maple Syrup Urine Disease

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