(Q79978594)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

S Vijay

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

A Patterson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

S Olpin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

M J Henderson

4

1 reference

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27 December 2019

S Clark

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

C Day

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

G Savill

7

1 reference

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27 December 2019

J H Walter

8

1 reference

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27 December 2019

publication date

23 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865412%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

27 December 2019

published in

1 reference

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27 December 2019

volume

29

1 reference

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27 December 2019

issue

5

1 reference

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27 December 2019

page(s)

627-630

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-006-0376-y

27 December 2019

exact match

0 references

cites work

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

1 reference

12 December 2020

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

1 reference

12 December 2020

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

1 reference

12 December 2020

The role of carnitine in intracellular metabolism

1 reference

12 December 2020

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

12 December 2020

L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Plasma carnitine concentrations in pregnancy, cord blood, and neonates and children

1 reference

12 December 2020

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

1 reference

12 December 2020