Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

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

Medicine, Pediatrics, Mass Spectrometric Analysis +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

Life Sciences, Medicine, Genetics +10

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

Ayman W. El‐Hattab, Fangyuan Li, Joseph Shen et al. · Genetics in Medicine · 2010 · 109 citations

Medicine, Biochemistry, Pediatrics +16

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Ni‐Chung Lee, Nelson L.S. Tang, Yin‐Hsiu Chien et al. · Molecular Genetics and Metabolism · 2009 · 102 citations

Medicine, Child Health, Pediatrics +12

Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric Crombez, Bernd Schwahn et al. · Molecular Genetics and Metabolism · 2006 · 93 citations

Medicine, Maternal Health, Pediatrics +12