(Q71755045)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564255%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency (English)

1 reference

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carnitine-acylcarnitine translocase deficiency

21 October 2019

main subject

0 references

author name string

K E Niezen-Koning

1

1 reference

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21 October 2019

F J van Spronsen

2

1 reference

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21 October 2019

L Ijlst

3

1 reference

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21 October 2019

R J Wanders

4

1 reference

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21 October 2019

M Brivet

5

1 reference

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21 October 2019

M Duran

6

1 reference

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21 October 2019

D J Reijngoud

7

1 reference

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21 October 2019

H S Heymans

8

1 reference

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21 October 2019

G P Smit

9

1 reference

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21 October 2019

publication date

1 January 1995

1 reference

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Journal of Inherited Metabolic Disease

21 October 2019

published in

1 reference

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21 October 2019

volume

18

1 reference

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21 October 2019

issue

2

1 reference

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21 October 2019

page(s)

230-232

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00711775

21 October 2019

exact match

0 references

cites work

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

1 reference

12 December 2020

Molecular basis of mitochondrial fatty acid oxidation defects

1 reference

12 December 2020

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency

1 reference

12 December 2020

Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients

1 reference

12 December 2020

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

1 reference

12 December 2020

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

1 reference

12 December 2020

Fatty acid oxidation disorders: A new class of metabolic diseases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711775

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564255%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference