Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. (Q43212183)

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15 January 2020

title

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects (English)

1 reference

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systemic primary carnitine deficiency

15 January 2020

main subject

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1 reference

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15 January 2020

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15 January 2020

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15 January 2020

Ayman W El-Hattab

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15 January 2020

Fernando Scaglia

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15 January 2020

Fang-Yuan Li

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15 January 2020

Berkley R Powell

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15 January 2020

Erawati V Bawle

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15 January 2020

Erica Wahl

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15 January 2020

Joyce A Kobori

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15 January 2020

Lee-Jun Wong

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15 January 2020

language of work or name

English

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publication date

1 January 2010

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15 January 2020

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volume

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issue

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page(s)

19-24

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

15 January 2020

cites work

1 reference

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Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

21 January 2018

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The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

21 January 2018

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Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

21 January 2018

1 reference

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Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

21 January 2018

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Disorders of carnitine transport and the carnitine cycle

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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Carnitine deficiency disorders in children

21 January 2018

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

21 January 2018

1 reference

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Phenotype and genotype variation in primary carnitine deficiency

21 January 2018

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Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

21 January 2018

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Transport of carnitine into cells in hereditary carnitine deficiency

21 January 2018

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Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

21 January 2018

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Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

21 January 2018

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Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

21 January 2018

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Pharmacological rescue of carnitine transport in primary carnitine deficiency

21 January 2018

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Primary and secondary alterations of neonatal carnitine metabolism.

21 January 2018

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Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

21 January 2018

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Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman

21 January 2018

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Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

21 January 2018

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