(Q34617143)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17417720%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands (English)

1 reference

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28 December 2019

1

1 reference

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28 December 2019

author name string

F Joensen

2

1 reference

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28 December 2019

D M Hougaard

3

1 reference

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28 December 2019

L K Jensen

4

1 reference

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28 December 2019

E Christensen

5

1 reference

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28 December 2019

M Christensen

6

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28 December 2019

B Nørgaard-Petersen

7

1 reference

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28 December 2019

M Schwartz

8

1 reference

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28 December 2019

F Skovby

9

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28 December 2019

publication date

6 April 2007

1 reference

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Journal of Inherited Metabolic Disease

28 December 2019

published in

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28 December 2019

volume

30

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28 December 2019

issue

3

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28 December 2019

page(s)

341-349

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https://scigraph.springernature.com/pub.10.1007/s10545-007-0527-9

28 December 2019

exact match

0 references

cites work

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

1 reference

12 December 2020

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and biochemical findings on a child with multiple biotin‐responsive carboxylase deficiencies

1 reference

12 December 2020

Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system

1 reference

12 December 2020

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

1 reference

12 December 2020

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

1 reference

12 December 2020

Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children

1 reference

12 December 2020

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

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

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

12 December 2020

Pharmacokinetics of L-carnitine

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the holocarboxylase synthetase gene HLCS.

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