Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California-Reference-Cited by-同舟云学术

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Published:2017-11 Issue:3 Volume:122 Page:76-84
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Gallant N.M.,Leydiker K.,Wilnai Y.,Lee C.,Lorey F.,Feuchtbaum L.,Tang H.,Carter J.,Enns G.M.,Packman S.,Lin H.J.,Wilcox W.R.,Cederbaum S.D.,Abdenur J.E.

Publisher

Elsevier BV

Subject

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

Reference28 articles.

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2. Renal handling of carnitine in secondary carnitine deficiency disorders;Stanley;Pediatr. Res.,1993

3. Transport of carnitine into cells in hereditary carnitine deficiency;Eriksson;J. Inherit. Metab. Dis.,1989

4. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy;Tein;Pediatr. Res.,1990

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

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1. Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis;Orphanet Journal of Rare Diseases;2024-07-03

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

3. Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France;International Journal of Neonatal Screening;2023-02-01

4. Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency;Proceedings of the National Academy of Sciences;2022-11-07

5. Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns;JIMD Reports;2022-09-16