X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria (Q34595191)

3 August 2017

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

1 reference

3 August 2017

dilated cardiomyopathy

1 reference

R. I. Kelley

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719174

7 November 2022

J. P. Cheatham

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719174

7 November 2022

B. J. Clark

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719174

7 November 2022

M. A. Nigro

4

1 reference

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7 November 2022

B. R. Powell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719174

7 November 2022

G. W. Sherwood

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1719174

7 November 2022

J. T. Sladky

7

1 reference

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7 November 2022

W. P. Swisher

8

1 reference

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7 November 2022

language of work or name

English

0 references

publication date

1 November 1991

1 reference

full work available at URL

3 August 2017

https://api.elsevier.com/content/article/PII:S0022347605802896?httpAccept=text/xml

1 reference

10.1016/S0022-3476(05)80289-6

DOI

https://api.crossref.org/works/10.1016/S0022-3476(05)80289-6

https://api.elsevier.com/content/article/PII:S0022347605802896?httpAccept=text/plain

7 November 2022

1 reference

10.1016/S0022-3476(05)80289-6

DOI

https://api.crossref.org/works/10.1016/S0022-3476(05)80289-6

The Journal of Pediatrics

7 November 2022

published in

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3 August 2017

119

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3 August 2017

5

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3 August 2017

738-747

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Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

3 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

7 January 2021

Mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

X-linked dilated cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Endocardial fibroelastosis: possible X linked inheritance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Two cases of endocardial fibroelastosis--possible x-linked determination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Heredity in primary endocardial fibroelastosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

3-Methylglutaconic aciduria in two infants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

2-Ethylhydracrylic acid: a newly described urinary organic acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

Hydroxycarboxylic and oxocarboxylic acids in urine: products from branched-chain amino acid degradation and from ketogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980289-6

10.1016/S0022-3476(05)80289-6

7 January 2021

Identifiers

DOI

1 reference

3 August 2017

1 reference