(Q33584380)

28 July 2017

title

Autosomal recessive lipid storage myopathy (probable carnitine deficiency) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

myopathy with abnormal lipid metabolism

10 July 2022

main subject

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.16.6.435

1 July 2023

author name string

C. Almog

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

10 July 2022

K. Fried

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

10 July 2022

R. Reif

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

10 July 2022

J. Zieghelboim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

10 July 2022

G. Lewinsohn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

10 July 2022

language of work or name

English

0 references

publication date

1 December 1979

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/16/6/435

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/537015/?tool=EBI

10 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/537015/pdf/?tool=EBI

10 July 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

https://europepmc.org/articles/PMC1012589

10 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

https://europepmc.org/articles/PMC1012589?pdf=render

10 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A537015

https://syndication.highwire.org/content/doi/10.1136/jmg.16.6.435

10 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.16.6.435

Journal of Medical Genetics

1 July 2023

published in

1 reference

28 July 2017

volume

16

1 reference

28 July 2017

issue

6

1 reference

28 July 2017

page(s)

435-438

1 reference

Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Further studies of mitochondrial and lipid storage myopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Fatal cases of lipid storage myopathy with carnitine deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Hereditary carnitine deficiency of muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Myopathy associated with abnormal lipid metabolism in skeletal muscle

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012589

Lipid storage myopathy responsive to prednisone

31 October 2018

1 reference

12 December 2020

A myopathy associated with lipid storage

1 reference

12 December 2020

Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes

1 reference

12 December 2020

Carnitine deficiency of skeletal muscle: report of a treated case

1 reference

12 December 2020

Identifiers

0 references

1 reference

28 July 2017

1 reference