Concepedia

Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric Crombez, Bernd Schwahn, Bryce A. Heese, Timothy C. Wood, Richard J. Schroer, Kristi Bentler, Stephen Cederbaum, Mark McCann, Piero Rinaldo,

Molecular Genetics and Metabolism · 2006 · 93 citations · 21 references

DOI

Concepts

References

21

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Bridget Wilcken, Veronica Wiley, Judith Hammond et al. · New England Journal of Medicine · 2003 · 683 citations

, , +14

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Jun‐ichi Nezu, Ikumi Tamai, Asuka Oku et al. · Nature Genetics · 1999 · 559 citations

, , +10

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Susan E. Waisbren · JAMA · 2003 · 363 citations

, , +15

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

Yuhuan Wang, Jing Ye, Vadivel Ganapathy et al. · Proceedings of the National Academy of Sciences · 1999 · 197 citations

, , +11

Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency

Akio Koizumi, Jun-nichi Nozaki, T. Ohura et al. · Human Molecular Genetics · 1999 · 179 citations · Full text

, , +11