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.

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

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

Cited by 75 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Secondary Carnitine Deficiency in Neonates and Infants Requiring Surgery for Intestinal Obstructions—An Underestimated and Undermanaged Problem;Children;2024-01-24

2. A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features;BMC Cardiovascular Disorders;2024-01-02

3. Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval;Molecular Genetics and Metabolism;2023-12

4. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples;Journal of Inherited Metabolic Disease;2023-09-12

5. A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns;Children;2023-08-03