The decision to discontinue screening for carnitine uptake disorder in New Zealand-Reference-Cited by-同舟云学术

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The decision to discontinue screening for carnitine uptake disorder in New Zealand

Published:2019-01 Issue:1 Volume:42 Page:86-92
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Wilson Callum¹^ORCID,Knoll Detlef²,de Hora Mark³,Kyle Campbell⁴,Glamuzina Emma¹,Webster Dianne³

Affiliation:

1. National Metabolic ServiceStarship Children's Hospital, P.O. Box 92024 Auckland 1142 New Zealand

2. Newborn Metabolic Screening UnitAuckland City Hospital Auckland New Zealand

3. Newborn Metabolic Screening ProgrammeLabPlus, Auckland City Hospital Auckland New Zealand

4. LabPlusAuckland City Hospital Auckland New Zealand

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12030

Reference39 articles.

1. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

2. Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

3. Pharmacological rescue of carnitine transport in primary carnitine deficiency

4. NovelOCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

5. Phenotypic manifestations of the OCTN2 V295X mutation: Sudden infant death and carnitine-responsive cardiomyopathy in Roma families

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

2. Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand;International Journal of Neonatal Screening;2024-07-05

3. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

4. Newborn screening for fatty acid oxidation disorders in a southern Chinese population;Heliyon;2024-01

5. Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening;Frontiers in Genetics;2023-12-06

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