(Q43212183)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

systemic primary carnitine deficiency

15 January 2020

main subject

0 references

author

Joseph Shen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Darius J. Adams

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Brett H Graham

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1

Ayman W El-Hattab

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

10

Fernando Scaglia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Fang-Yuan Li

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Berkley R Powell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Erawati V Bawle

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Erica Wahl

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Joyce A Kobori

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Lee-Jun Wong

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

English

0 references

publication date

1 January 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

19-24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20027113%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181c5e6f7

15 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Disorders of carnitine transport and the carnitine cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Carnitine deficiency disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Phenotype and genotype variation in primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Transport of carnitine into cells in hereditary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Primary and secondary alterations of neonatal carnitine metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E6F7