Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria (Q71755038)

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21 October 2019

title

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564252%20AND%20SRC:MED&resulttype=core&format=json

3-methylglutaconic aciduria

21 October 2019

main subject

1 reference

1 reference

G T Besley

1

1 reference

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21 October 2019

M Lendon

2

1 reference

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21 October 2019

D M Broadhead

3

1 reference

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21 October 2019

J Till

4

1 reference

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21 October 2019

L E Heptinstall

5

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21 October 2019

B Phillips

6

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21 October 2019

publication date

1 January 1995

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Journal of Inherited Metabolic Disease

21 October 2019

published in

1 reference

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21 October 2019

volume

18

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21 October 2019

page(s)

221-223

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21 October 2019

issue

2

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https://scigraph.springernature.com/pub.10.1007/bf00711772

21 October 2019

exact match

0 references

cites work

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

1 reference

12 December 2020

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome

1 reference

12 December 2020

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

1 reference

12 December 2020

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

1 reference

12 December 2020

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

1 reference

12 December 2020

Barth syndrome: clinical observations and genetic linkage studies.

1 reference

12 December 2020

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

1 reference

12 December 2020

3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')

1 reference

12 December 2020

3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism

1 reference

12 December 2020

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711772

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564252%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference