Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. (Q48820917)

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31 October 2019

title

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients (English)

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long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

31 October 2019

main subject

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author

Leena Valanne

4

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31 October 2019

Matti Salo

5

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31 October 2019

N Venizelos

9

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author name string

T Tyni

1

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31 October 2019

A Palotie

2

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31 October 2019

L Viinikka

3

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31 October 2019

U von Döbeln

6

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31 October 2019

S Jackson

7

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31 October 2019

R Wanders

8

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31 October 2019

H Pihko

10

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31 October 2019

language of work or name

English

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publication date

1 January 1997

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The Journal of Pediatrics

31 October 2019

number of pages

10

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inferred from page(s)

published in

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31 October 2019

volume

130

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31 October 2019

page(s)

67-76

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issue

1

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Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

31 October 2019

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Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

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Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis

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Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency

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Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

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3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

7 January 2021

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient

7 January 2021

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7 January 2021

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients

7 January 2021

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Identifiers

DOI

10.1016/S0022-3476(97)70312-3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9003853%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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