Muscular carnitine palmitoyltransferase II deficiency in infancy (Q40624119)

22 September 2017

Muscular carnitine palmitoyltransferase II deficiency in infancy (English)

1 reference

carnitine palmitoyltransferase II deficiency

22 September 2017

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Hurvitz H

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22 September 2017

Klar A

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22 September 2017

Korn-Lubetzki I

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22 September 2017

Wanders RJ

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22 September 2017

Elpeleg ON

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22 September 2017

1 February 2000

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22 September 2017

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22 September 2017

22

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22 September 2017

148-150

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2

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Regulation of hepatic fatty acid oxidation and ketone body production

22 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

Fatal infantile form of muscle phosphorylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2899%2900125-3

7 January 2021

10.1016/S0887-8994(99)00125-3

Identifiers

DOI

1 reference

22 September 2017

1 reference