(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

1

P. G. Barth

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

author name string

Van 't Veer-Korthof ET

6

1 reference

31 July 2017

H. R. Scholte

2

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

3

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

4

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

5

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

6

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

7

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

8

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

1 reference

full work available at URL

31 July 2017

number of pages

29

1 reference

based on heuristic

inferred from page(s)

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

1 reference

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

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

Journal of the Neurological Sciences

13 August 2023

published in

1 reference

31 July 2017

volume

62

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31 July 2017

issue

1-3

1 reference

31 July 2017

page(s)

327-355

1 reference

Carnitine deficiency of skeletal muscle: report of a treated case

31 July 2017

cites work

1

1 reference

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

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

13 August 2023

2

1 reference

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

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

13 August 2023

4

1 reference

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

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

13 August 2023

5

1 reference

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

AMP deaminase from rat skeletal muscle

13 August 2023

7

1 reference

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

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

13 August 2023

8

1 reference

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

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

13 August 2023

9

1 reference

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

Transvascular endomyocardial biopsy in infants and small children. Myocardial findings in 10 cases of cardiomyopathy

13 August 2023

10

1 reference

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

Muscle carnitine deficiency and fatal cardiomyopathy

13 August 2023

11

1 reference

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

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

13 August 2023

13

1 reference

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

Protein measurement with the Folin phenol reagent

13 August 2023

15

1 reference

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

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

13 August 2023

16

1 reference

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

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

13 August 2023

17

1 reference

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

An X-linked recessive cardiomyopathy with abnormal mitochondria

13 August 2023

18

1 reference

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

Microdetermination of (-)carnitine and carnitine acetyltransferase activity

13 August 2023

19

1 reference

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

Human bone marrow colony growth in agar-gel

13 August 2023

20

1 reference

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

Quantitative leukocyte iodination

13 August 2023

21

1 reference

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

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

13 August 2023

23

1 reference

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

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

13 August 2023

24

1 reference

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

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

13 August 2023

25

1 reference

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

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

13 August 2023

26

1 reference

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

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

13 August 2023

30

1 reference

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

A method of measuring the yield of oxidative phosphorylation

13 August 2023

31

1 reference

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

Glucagon treatment stimulates the oxidation of durohydroquinone by rat liver mitochondria

13 August 2023

32

1 reference

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

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

13 August 2023

33

1 reference

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

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

13 August 2023

34

1 reference

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

The extinction coefficient of cytochrome c

13 August 2023

35

1 reference

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

The extinction coefficient of cytochrome c

13 August 2023

36

1 reference

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

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

13 August 2023

37

1 reference

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

The Detection of Granulocyte Alloantibodies with an Indirect Immunofluorescence Test

13 August 2023

38

1 reference

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

Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations

13 August 2023

40

1 reference

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

The quantitative estimation of cytochrome b in sub-mitochondrial particles from beef heart

13 August 2023

43

1 reference

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

13 August 2023

Identifiers

1 reference

31 July 2017

1 reference