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

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

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

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7 January 2021

Identifiers

DOI

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24 December 2017

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24 December 2017