(Q28212317)

ORCID Public Data File 2021

author name string

Z Rahbeeni

1

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F M Vaz

2

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K Al-Hussein

3

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M P Bucknall

4

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J Ruiter

5

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R J Wanders

6

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M S Rashed

Journal of Inherited Metabolic Disease

7

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language of work or name

English

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publication date

September 2002

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published in

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volume

25

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issue

5

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page(s)

363-9

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cites work

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

1 reference

12 December 2020

Rapid and simple method for purification of nucleic acids

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

1 reference

12 December 2020

Sudden neonatal death in carnitine transporter deficiency.

1 reference

12 December 2020

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

12 December 2020

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

1 reference

12 December 2020

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

1 reference

12 December 2020

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

1 reference

12 December 2020