(Q71482684)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786066%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency (English)

1 reference

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18 October 2019

3

1 reference

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18 October 2019

author name string

I Handig

1

1 reference

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18 October 2019

E Dams

2

1 reference

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18 October 2019

S Van Laere

4

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18 October 2019

T de Barsy

5

1 reference

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18 October 2019

J Willems P

6

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18 October 2019

publication date

1 March 1996

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18 October 2019

1 reference

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18 October 2019

volume

97

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18 October 2019

page(s)

291-293

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18 October 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf02185756

18 October 2019

exact match

0 references

cites work

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

1 reference

12 December 2020

Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system

1 reference

12 December 2020

Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmityl transferase deficiency

1 reference

12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

1 reference

12 December 2020

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

1 reference

12 December 2020

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

12 December 2020

cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase

1 reference

12 December 2020

Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

1 reference

12 December 2020

Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase

1 reference

12 December 2020

1 reference

12 December 2020

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

1 reference

12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02185756

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8786066%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference