Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency (Q63384430)

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15 September 2019

title

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency (English)

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15 September 2019

1

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15 September 2019

author name string

F Sunaryo

2

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15 September 2019

D E Hale

3

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15 September 2019

J P Bonnefont

4

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15 September 2019

F Demaugre

5

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15 September 2019

J M Saudubray

6

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15 September 2019

publication date

1 January 1992

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Journal of Inherited Metabolic Disease

15 September 2019

published in

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15 September 2019

volume

15

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15 September 2019

issue

5

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15 September 2019

page(s)

785-789

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

15 September 2019

cites work

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12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency

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12 December 2020

Deficiency of carnitine palmitoyltransferase I.

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12 December 2020

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

12 December 2020

Primary systemic carnitine deficiency. II. Renal handling of carnitine

1 reference

12 December 2020

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

1 reference

12 December 2020

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

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12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

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12 December 2020

Specificity and characteristics of the carnitine transport in human heart cells (CCL 27) in culture

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12 December 2020