(Q24539033)

6 July 2017

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

1 reference

6 July 2017

Shoji Y

1

1 reference

6 July 2017

Koizumi A

2

1 reference

6 July 2017

Kayo T

3

1 reference

6 July 2017

Ohata T

4

1 reference

6 July 2017

Takahashi T

5

1 reference

6 July 2017

Harada K

6

1 reference

6 July 2017

Takada G

7

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 July 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

63

1 reference

6 July 2017

101-108

1 reference

6 July 2017

1

1 reference

Strategies for multilocus linkage analysis in humans

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377235

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377235

Animal model of systemic carnitine deficiency: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377235

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377235

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377235

Sudden neonatal death in carnitine transporter deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377235

Primary systemic carnitine deficiency. II. Renal handling of carnitine

30 May 2018

1 reference

12 December 2020

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

1 reference

12 December 2020

Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2° strain of mouse with similarities to Reye's syndrome

1 reference

12 December 2020

Multicenter trial of L-carnitine in maintenance hemodialysis patients. I. Carnitine concentrations and lipid effects

1 reference

12 December 2020

Carnitine determination by an enzymatic cycling method with carnitine dehydrogenase

1 reference

12 December 2020

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

1 reference

12 December 2020

Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on chromosome 11

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301911

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301911

1 reference

6 July 2017

1 reference

6 July 2017

1 reference