Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening (Q34092807)

31 July 2017

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

1 reference

31 July 2017

8

Wuh-Liang Hwu

1 reference

31 July 2017

Ni-Chung Lee

1

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Chun-An Chen

Chun-An Chen

4

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Yin-Hsiu Chien

Yin-Hsiu Chien

3

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Nelson Leung-Sang Tang

Nelson Leung-Sang Tang

2

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Pao-Chin Chiu

6

Pao-Chin Chiu

1 reference

31 July 2017

Sho-Juan Lin

5

1 reference

PubMed ID

20074989

31 July 2017

Ai-Chu Huang

7

1 reference

31 July 2017

28 December 2009

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Molecular Genetics and Metabolism

31 July 2017

1 reference

31 July 2017

100

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31 July 2017

46-50

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31 July 2017

1

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

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Expanded newborn screening identifies maternal primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Primary and secondary alterations of neonatal carnitine metabolism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

First prenatal diagnosis of the carnitine transporter defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.015

10.1016/J.YMGME.2009.12.015

7 January 2021

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

20074989