(Q71345316)

English

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

scientific article published on 01 January 1996

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

carnitine-acylcarnitine translocase deficiency

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author name string

M Brivet

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

A Slama

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

D S Millington

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

C R Roe

4

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Europe PubMed Central

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18 October 2019

F Demaugre

5

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18 October 2019

A Legrand

6

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18 October 2019

A Boutron

7

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Europe PubMed Central

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18 October 2019

F Poggi

8

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Europe PubMed Central

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18 October 2019

J M Saudubray

9

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18 October 2019

publication date

1 January 1996

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18 October 2019

Journal of Inherited Metabolic Disease

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18 October 2019

19

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18 October 2019

2

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18 October 2019

181-184

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Europe PubMed Central

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18 October 2019

https://scigraph.springernature.com/pub.10.1007/bf01799424

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disorders of mitochondrial long-chain fatty acid oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739960

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799424

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739960%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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