A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy (Q56901536)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

1 reference

3-methylglutaconic aciduria

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3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Chiara Pantaleoni

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ORCID Public Data File 2021

author name string

C Pantaleoni

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S D'Arrigo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Rimoldi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

D Riva

5

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2 November 2019

language of work or name

English

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publication date

1 November 2000

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2 November 2019

number of pages

3

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inferred from page(s)

published in

Pediatric Neurology

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2 November 2019

volume

23

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2 November 2019

issue

5

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2 November 2019

page(s)

442-444

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Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

3-Methylglutaconic aciduria: ten new cases with a possible new phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

Gross motor patterns in children with cerebral palsy and spastic diplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

Urinary organic acid screening in children with developmental language delay.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

3-Methylglutaconic aciduria in "optic atrophy plus".

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

MRI in 3-methylglutaconic aciduria type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

3-Methyl Glutaconic Aciduria in Iraqi Jewish Children May be Misdiagnosed as Cerebral Palsy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900217-4

7 January 2021

10.1016/S0887-8994(00)00217-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11118804%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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