Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening-Reference-Cited by-同舟云学术

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Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening

Published:2020-03 Issue:3 Volume:129 Page:213-218
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Verbeeten Kate C.,Lamhonwah Anne-Marie,Bulman Dennis,Faghfoury Hanna,Chakraborty P.,Tein Ingrid,Geraghty Michael T.

Publisher

Elsevier BV

Subject

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

Reference12 articles.

1. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency;Cederbaum;Mol. Genet. Metab.,2002

2. Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation;Rasmussen;JIMD Rep.,2015

3. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy;Lamhonwah;Am. J. Med. Genet.,2002

4. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects;El-Hattab;Genet Med.,2010

5. Historical perspective on clinical trials of carnitine in children and adults;Buist;Ann. Nutr. Metab.,2016

Cited by 9 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. Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency;Molecular Genetics & Genomic Medicine;2024-09

2. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-07-01

3. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-05-31

4. Newborn screening for primary carnitine deficiency using a second-tier genetic test;Journal of Pediatric Endocrinology and Metabolism;2024-01-01

5. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study;Journal of Medical Genetics;2023-07-24

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