(Q46912583)

26 December 2017

title

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events (English)

1 reference

26 December 2017

main subject

pivalic acid

1 reference

ChEBI release 2020-05-28

ChEBI ID

45133

author

Olav Wendelboe Nielsen

object named as

Olav W Nielsen

2

0 references

Lars Køber

4

object named as

Lars Køber

1 reference

26 December 2017

0 references

Jan Rasmussen

1

1 reference

26 December 2017

Allan M Lund

3

1 reference

26 December 2017

Høgni Djurhuus

5

1 reference

26 December 2017

publication date

8 May 2012

1 reference

26 December 2017

Journal of Inherited Metabolic Disease

published in

1 reference

26 December 2017

volume

36

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26 December 2017

issue

1

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26 December 2017

page(s)

35-41

1 reference

26 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-012-9488-8

exact match

0 references

cites work

The brain in acute liver failure. A tortuous path from hyperammonemia to cerebral edema

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Regulation by carnitine of myocardial fatty acid and carbohydrate metabolism under normal and pathological conditions

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Vitamins, supplements, herbal medicines, and arrhythmias

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12 December 2020

Long-chain fatty acids activate calcium channels in ventricular myocytes

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Electron microscopic study of brain capillaries in cerebral edema from fulminant hepatic failure

21 January 2018

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Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

21 January 2018

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Influence of L-carnitine and its derivatives on myocardial metabolism and function in ischemic heart disease and during cardiopulmonary bypass

21 January 2018

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Hyperammonemic encephalopathy caused by carnitine deficiency

21 January 2018

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Disorders of carnitine transport and the carnitine cycle

21 January 2018

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21 January 2018

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21 January 2018

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Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

21 January 2018

1 reference

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Role of Na+/L-carnitine transporter (OCTN2) in renal handling of pivaloylcarnitine and valproylcarnitine formed during pivalic acid-containing prodrugs and valproic acid treatment

21 January 2018

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21 January 2018

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Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

21 January 2018

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Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

Age and sex dependency of carnitine concentration in human serum and skeletal muscle

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12 December 2020

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

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12 December 2020

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

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12 December 2020

Fatty acid oxidation and cardiac function in the sodium pivalate model of secondary carnitine deficiency

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12 December 2020

Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.

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12 December 2020

[Carnitine levels in pregnancy]

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12 December 2020

Carnitine function and requirements during the life cycle

1 reference

12 December 2020

Alteration of Ammonia and Carnitine Levels in Short-Term Treatment with Pivalic Acid-Containing Prodrug

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12 December 2020

Plasma carnitine in pregnancy

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12 December 2020

Carnitine status of lactoovovegetarians and strict vegetarian adults and children

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12 December 2020

Effects of L-carnitine on arrhythmias during hemodialysis

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12 December 2020

Carnitine transporter deficiency in two Faeroese children

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12 December 2020

Utilization of dietary precursors for carnitine synthesis in human adults

1 reference

12 December 2020

10.1007/S10545-012-9488-8

Identifiers

DOI

1 reference

26 December 2017

1 reference

26 December 2017