Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening-Reference-Cited by-同舟云学术

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

Published:2010-05 Issue:1 Volume:100 Page:46-50
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lee Ni-Chung,Tang Nelson Leung-Sang,Chien Yin-Hsiu,Chen Chun-An,Lin Sho-Juan,Chiu Pao-Chin,Huang Ai-Chu,Hwu Wuh-Liang

Publisher

Elsevier BV

Subject

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

Reference32 articles.

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2. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 212140: 8/3/2009. Available from http://www.ncbi.nlm.nih.gov/omim/.

3. Expanded newborn screening identifies maternal primary carnitine deficiency;Schimmenti;Mol. Genet. Metab.,2007

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

5. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency;Tang;Hum. Mol. Genet.,1999

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