Disorders of carnitine transport and the carnitine cycle (Q24658342)

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Europe PubMed Central

title

Disorders of carnitine transport and the carnitine cycle (English)

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author name string

Nicola Longo

series ordinal

1

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Cristina Amat di San Filippo

series ordinal

2

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Marzia Pasquali

series ordinal

3

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language of work or name

English

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publication date

15 May 2006

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published in

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volume

142C

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issue

2

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page(s)

77-85

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cites work

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

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Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency

7 April 2017

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A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

7 April 2017

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Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

7 April 2017

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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

7 April 2017

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Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

7 April 2017

1 reference

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Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

7 April 2017

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Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

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Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

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

28 September 2017

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Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

30 May 2018

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Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

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

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Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

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28 November 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

28 November 2018

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Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency.

28 November 2018

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28 November 2018

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

28 November 2018

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A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

28 November 2018

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Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry

28 November 2018

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28 November 2018

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28 November 2018

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28 November 2018

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Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation

28 November 2018

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12 December 2020

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency

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12 December 2020

Functional characterization of the carnitine transporter defective in primary carnitine deficiency

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12 December 2020

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

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12 December 2020

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry

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https://api.crossref.org/works/10.1002%2FAJMG.C.30087

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/AJMG.C.30087

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1 reference

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PubMed publication ID

16602102

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