Expanded newborn screening identifies maternal primary carnitine deficiency-Reference-Cited by-同舟云学术

Expanded newborn screening identifies maternal primary carnitine deficiency

Published:2007-04 Issue:4 Volume:90 Page:441-445
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Schimmenti Lisa A.,Crombez Eric A.,Schwahn Bernd C.,Heese Bryce A.,Wood Timothy C.,Schroer Richard J.,Bentler Kristi,Cederbaum Stephen,Sarafoglou Kiki,McCann Mark,Rinaldo Piero,Matern Dietrich,di San Filippo Cristina Amat,Pasquali Marzia,Berry Susan A.,Longo Nicola

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N. Engl. J. Med.,2003

2. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress;Waisbren;JAMA,2003

3. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry;Wilcken;J. Pediatr.,2001

4. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter;Nezu;Nat. Genet.,1999

5. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency;Wang;Proc. Natl. Acad. Sci. USA,1999

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