(Q40619607)

22 September 2017

title

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria (English)

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22 September 2017

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C Bruno

1

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22 September 2017

M Bado

2

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22 September 2017

C Minetti

3

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22 September 2017

G Cordone

4

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22 September 2017

S DiMauro

5

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22 September 2017

publication date

1 June 2000

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Journal of Child Neurology

22 September 2017

published in

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22 September 2017

volume

15

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22 September 2017

issue

6

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22 September 2017

page(s)

390-393

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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

22 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

Metabolic causes of myoglobinuria

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

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/10.1177%2F088307380001500607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

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/10.1177%2F088307380001500607

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/10.1177%2F088307380001500607

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

Myoglobinuria associated with influenza A infection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307380001500607

10.1177/088307380001500607

21 January 2018

Identifiers

DOI

0 references

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