(Q77976885)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398215%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency (English)

1 reference

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9 December 2019

9

1 reference

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9 December 2019

author name string

M A Martín

1

1 reference

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9 December 2019

J C Rubio

2

1 reference

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9 December 2019

F De Bustos

3

1 reference

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9 December 2019

P Del Hoyo

4

1 reference

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9 December 2019

Y Campos

5

1 reference

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9 December 2019

A García

6

1 reference

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9 December 2019

B Börnstein

7

1 reference

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9 December 2019

A Cabello

8

1 reference

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9 December 2019

publication date

1 July 1999

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9 December 2019

1 reference

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9 December 2019

volume

22

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9 December 2019

issue

7

1 reference

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9 December 2019

page(s)

941-943

1 reference

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

9 December 2019

cites work

1 reference

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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

A novel mutation identified in carnitine palmitoyltransferase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199907%2922%3A7%3C941%3A%3AAID-MUS20%3E3.0.CO%3B2-Z

10.1002/(SICI)1097-4598(199907)22:7<941::AID-MUS20>3.0.CO;2-Z

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10398215%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference