(Q46690738)

24 December 2017

title

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency (English)

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24 December 2017

carnitine palmitoyltransferase I deficiency

main subject

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5

Ronald J A Wanders

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24 December 2017

author name string

Stanley H Korman

1

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24 December 2017

Hans R Waterham

2

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24 December 2017

Alisa Gutman

3

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24 December 2017

Cornelis Jakobs

4

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24 December 2017

language of work or name

1 reference

16 September 2005

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24 December 2017

Molecular Genetics and Metabolism

published in

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24 December 2017

volume

86

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24 December 2017

issue

3

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24 December 2017

page(s)

337-343

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24 December 2017

A novel brain-expressed protein related to carnitine palmitoyltransferase I

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Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency

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Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

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Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency

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Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

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Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

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

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Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low

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

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Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening Program

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Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids

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Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

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Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile

7 January 2021

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7 January 2021

Identifiers

DOI

1 reference

24 December 2017

1 reference

24 December 2017