(Q52234509)

27 April 2018

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

3-methylglutaconic aciduria

20 September 2022

main subject

1 reference

D. Chitayat

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

J. Chemke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

K. M. Gibson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

O. A. Mamer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

J. B. Kronick

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

J. J. McGill

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

B. Rosenblatt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

L. Sweetman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

C. R. Scriver

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1382150

20 September 2022

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=1382150

20 September 2022

publication date

1 January 1992

1 reference

27 April 2018

Journal of Inherited Metabolic Disease

published in

1 reference

27 April 2018

volume

15

1 reference

27 April 2018

issue

2

1 reference

27 April 2018

page(s)

204-212

1 reference

27 April 2018

https://scigraph.springernature.com/pub.10.1007/bf01799632

exact match

0 references

cites work

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799632

Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi

21 January 2018

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

Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: facts and future

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

1 reference

12 December 2020

Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia

1 reference

12 December 2020

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799632

1 reference

27 April 2018

1 reference

27 April 2018