Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests (Q34581240)

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23 February 2020

title

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests (English)

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23 February 2020

5

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23 February 2020

Ni-Chung Lee

6

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23 February 2020

Yin-Hsiu Chien

7

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3

Pin-Wen Chen

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23 February 2020

4

Shu-Chuan Chiang

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23 February 2020

author name string

Li-Yun Wang

1

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23 February 2020

Nien-I Chen

2

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23 February 2020

publication date

10 February 2013

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23 February 2020

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23 February 2020

volume

14

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23 February 2020

page(s)

24

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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Newborn screening may fail to identify intermediate forms of maple syrup urine disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3575349

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-24

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

21 January 2018

1 reference

12 December 2020

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation

1 reference

12 December 2020

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)

1 reference

12 December 2020

Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-14-24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23394329%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

23 February 2020

0 references

1 reference

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23 February 2020

PubMed publication ID

23394329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23394329%20AND%20SRC:MED&resulttype=core&format=json