(Q61585232)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17126586%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

Expanded newborn screening identifies maternal primary carnitine deficiency (English)

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22 December 2019

1

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22 December 2019

Susan A. Berry

15

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22 December 2019

author name string

Kristi Bentler

7

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22 December 2019

Stephen Cederbaum

8

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22 December 2019

Kiki Sarafoglou

9

1 reference

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22 December 2019

Mark McCann

10

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22 December 2019

Piero Rinaldo

11

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22 December 2019

Dietrich Matern

12

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22 December 2019

Cristina Amat di San Filippo

13

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22 December 2019

Marzia Pasquali

14

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22 December 2019

Nicola Longo

16

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22 December 2019

Eric A Crombez

2

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22 December 2019

Bernd C Schwahn

3

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22 December 2019

Bryce A Heese

4

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22 December 2019

Timothy C Wood

5

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22 December 2019

Richard J Schroer

6

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22 December 2019

publication date

28 November 2006

1 reference

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Molecular Genetics and Metabolism

22 December 2019

published in

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22 December 2019

volume

90

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22 December 2019

issue

4

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22 December 2019

page(s)

441-445

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Screening newborns for inborn errors of metabolism by tandem mass spectrometry

22 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

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.2006.10.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

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.2006.10.003

Carnitine deficiency disorders in children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

Disorders of carnitine transport and the carnitine cycle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

Phenotype and genotype variation in primary carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

Primary and secondary alterations of neonatal carnitine metabolism.

7 January 2021

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First prenatal diagnosis of the carnitine transporter defect

7 January 2021

1 reference

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Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

7 January 2021

1 reference

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Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

7 January 2021

1 reference

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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.2006.10.003

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

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

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7 January 2021

1 reference

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Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

7 January 2021

1 reference

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Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman.

7 January 2021

1 reference

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Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

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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.2006.10.003

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.2006.10.003

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.003

10.1016/J.YMGME.2006.10.003

7 January 2021

Identifiers

DOI

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22 December 2019

1 reference