(Q72097479)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

23 October 2019

main subject

1 reference

3-methylglutaconic aciduria

inferred from title

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

H Ibel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

W Endres

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

H B Hadorn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

I Paetzke

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

M Duran

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

N G Kennaway

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

K M Gibson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 August 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

23 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

152

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

665-670

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01955244

23 October 2019

exact match

0 references

cites work

Carnitine metabolism and inborn errors

1 reference

12 December 2020

Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

1 reference

12 December 2020

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

1 reference

12 December 2020

A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain

1 reference

12 December 2020

Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle. An enzymehistochemical--ultra-immunocytochemical--fine structural study in longterm frozen autopsy tissue.

1 reference

12 December 2020

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

12 December 2020

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

1 reference

12 December 2020

Molecular defects in cytochrome oxidase in mitochondrial diseases

1 reference

12 December 2020

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

1 reference

12 December 2020

Differential investigation of the capacity of succinate oxidation in human skeletal muscle

1 reference

12 December 2020

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1 reference

12 December 2020

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts by lipoproteins

1 reference

12 December 2020

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts

1 reference

12 December 2020

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

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

Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

1 reference

12 December 2020

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Deficiency of subunits in heart mitochondrial NADH-ubiquinone oxidoreductase of a patient with mitochondrial encephalomyopathy and cardiomyopathy.

1 reference

12 December 2020

Diseases of the mitochondrial DNA.

1 reference

12 December 2020

Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies

1 reference

12 December 2020

Estimation of NADH oxidation in human skeletal muscle mitochondria.

1 reference

12 December 2020

Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure.

1 reference

12 December 2020

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

1 reference

12 December 2020

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

1 reference

12 December 2020

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

Mitochondrial myopathy and cardiomyopathy in siblings

1 reference

12 December 2020

Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria

1 reference

12 December 2020

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

1 reference

12 December 2020

Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01955244

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7691603%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference