(Q43760421)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19238580%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency (English)

1 reference

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22 January 2020

1 reference

1 reference

6

1 reference

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22 January 2020

author name string

K Komlósi

1

1 reference

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22 January 2020

L Magyari

2

1 reference

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22 January 2020

G C Talián

3

1 reference

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22 January 2020

E Nemes

4

1 reference

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22 January 2020

R Káposzta

5

1 reference

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22 January 2020

K Méhes

7

1 reference

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22 January 2020

B Melegh

8

1 reference

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22 January 2020

publication date

24 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19238580%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

22 January 2020

published in

1 reference

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22 January 2020

volume

32 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19238580%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

S15-9

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-009-0926-1

22 January 2020

exact match

0 references

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

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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Determination of carnitine ester patterns during the second half of pregnancy, at delivery, and in neonatal cord blood by tandem mass spectrometry: complex and dynamic involvement of carnitine in the intermediary metabolism.

21 January 2018

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

21 January 2018

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Carnitine transport: pathophysiology and metabolism of known molecular defects

21 January 2018

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Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

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cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

21 January 2018

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Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

21 January 2018

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12 December 2020

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

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12 December 2020

Histopathologic abnormalities of the lymphoreticular tissues in organic cation transporter 2 deficiency: evidence for impaired B cell maturation

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12 December 2020

Preferential elimination of pivalate with supplemental carnitine via formation of pivaloylcarnitine in man

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12 December 2020

Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma

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12 December 2020

Expanded newborn screening identifies maternal primary carnitine deficiency

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12 December 2020

Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families

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12 December 2020

The relationship between carnitine and ketone body levels in diabetic children

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12 December 2020