(Q37052000)

17 August 2017

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

1 reference

17 August 2017

A. G. Engel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A874508

3 August 2022

B. Q. Banker

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A874508

3 August 2022

R. M. Eiben

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A874508

3 August 2022

language of work or name

English

0 references

publication date

1 April 1977

1 reference

PMC publication ID

492697

full work available at URL

17 August 2017

https://europepmc.org/articles/PMC492697

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A874508

https://europepmc.org/articles/PMC492697?pdf=render

3 August 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%3A874508

Journal of Neurology, Neurosurgery and Psychiatry

3 August 2022

published in

1 reference

17 August 2017

40

1 reference

17 August 2017

4

1 reference

17 August 2017

313-322

1 reference

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Mutation and enzyme function in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Amino Acid Metabolism in Man

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

The formation of alanine from amino acids in diaphragm muscle of the rat.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Lipid storage myopathy with normal carnitine levels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Human muscle fiber fine structure: Morphometric data on controls

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Hereditary carnitine deficiency of muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Origin and possible significance of alanine production by skeletal muscle.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

Hydroxylation of gamma-butyrobetaine to carnitine in rat liver.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

[Sudanophilic (mitochondria) myopathy (author's transl)].

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

ENZYMOLOGICAL DETERMINATION OF FREE CARNITINE CONCENTRATIONS IN RAT TISSUES

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=492697

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

4 September 2018

1 reference

12 December 2020

Oxidation of branched chain amino acids by isolated hearts and diaphragms of the rat. The effect of fatty acids, glucose, and pyruvate respiration

1 reference

12 December 2020

A method for the determination of carnitine in the picomole range

1 reference

12 December 2020

Carnitine deficiency of skeletal muscle: report of a treated case

1 reference

12 December 2020

Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.40.4.313

1 reference

17 August 2017

1 reference

PMC publication ID

492697

17 August 2017

1 reference

PMC publication ID

492697