Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2

Ikumi Tamai, Rikiya Ohashi, Jun‐ichi Nezu et al. · Journal of Biological Chemistry · 1998 · 705 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

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

The syndrome of systemic carnitine deficiency

George Karpati, Stirling Carpenter, Andrew G. Engel et al. · Neurology · 1975 · 400 citations

Life Sciences, Biochemistry, Pediatrics +16

cDNA Sequence, Transport Function, and Genomic Organization of Human OCTN2, a New Member of the Organic Cation Transporter Family

Xiang Wu, Puttur D. Prasad, Frederick H. Leibach et al. · Biochemical and Biophysical Research Communications · 1998 · 342 citations

Life Sciences, Molecular Biology, Molecular Genetics +8