An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes (Q34247905)

31 July 2017

title

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes (English)

1 reference

31 July 2017

main subject

mitochondrial disease

1 reference

1 reference

https://api.crossref.org/works/10.1016/0022-510X(83)90209-5

13 August 2023

P. G. Barth

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

author name string

Van 't Veer-Korthof ET

1 reference

31 July 2017

H. R. Scholte

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

J. A. Berden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

J. M. Van der Klei-Van Moorsel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

I. E. Luyt-Houwen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

E. T. Van 't Veer-Korthof

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

J. J. Van der Harten

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

M. A. Sobotka-Plojhar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142097

13 August 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6142097

13 August 2023

publication date

1 December 1983

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full work available at URL

31 July 2017

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inferred from page(s)

https://api.elsevier.com/content/article/PII:0022510X83902095?httpAccept=text/xml

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1016/0022-510X(83)90209-5

https://api.elsevier.com/content/article/PII:0022510X83902095?httpAccept=text/plain

13 August 2023

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1016/0022-510X(83)90209-5

Journal of the Neurological Sciences

13 August 2023

published in

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31 July 2017

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31 July 2017

issue

1-3

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31 July 2017

page(s)

327-355

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Carnitine deficiency of skeletal muscle: report of a treated case

31 July 2017

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The reaction of antimycin with a cytochrome b preparation active in reconstitution of the respiratory chain

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Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

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The isolation of skeletal muscle mitochondria showing tight coupling, high respiratory indices, and differential adenosine triphosphatase activities

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Enzymic Activities of Human Skeletal Muscle Mitochondria: A Tool in Clinical Metabolic Research

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Muscle carnitine deficiency and fatal cardiomyopathy

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A rapid enzymic method for glycogen estimation in very small tissue samples

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Protein measurement with the Folin phenol reagent

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Cardiac biopsy in skeletal myopathy: report of a case with myocardial mitochondrial abnormalities

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

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An X-linked recessive cardiomyopathy with abnormal mitochondria

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Microdetermination of (-)carnitine and carnitine acetyltransferase activity

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Human bone marrow colony growth in agar-gel

13 August 2023

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Quantitative leukocyte iodination

13 August 2023

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Variation in plasma ketone bodies during a 24-hour fast in normal and in hypoglycemic children: relationship to age.

13 August 2023

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The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases

13 August 2023

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Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes

13 August 2023

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Familial carnitine deficiency. A fatal case and subclinical state in a sister

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Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

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Glucagon treatment stimulates the oxidation of durohydroquinone by rat liver mitochondria

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

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Optical properties of cytochromes from beef heart mitochondria, submitochondrial vesicles, and derived preparations

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The extinction coefficient of cytochrome c

13 August 2023

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The extinction coefficient of cytochrome c

13 August 2023

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An accurate and sensitive assay of long-chain fatty acid oxidation in human skeletal muscle

13 August 2023

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The Detection of Granulocyte Alloantibodies with an Indirect Immunofluorescence Test

13 August 2023

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13 August 2023

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13 August 2023

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13 August 2023

Identifiers

DOI

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31 July 2017

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