Neurocognitive phenotype of isolated methylmalonic acidemia (Q35996771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Neurocognitive phenotype of isolated methylmalonic acidemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

main subject

methylmalonic acidemia

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Colin J O'Shea

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jennifer L Sloan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Edythe A Wiggs

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Maryland Pao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Andrea Gropman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Eva H Baker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Charles P Venditti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Joseph Snow

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

English

0 references

publication date

21 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

e1541-51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

The role of the basal ganglia in data processing

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Neuropsychological effects of seizures

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

High cognitive outcome in an adolescent with mut- methylmalonic acidemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Neurological outcome of methylmalonic acidaemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

The Natural History of the Inherited Methylmalonic Acidemias

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Varying neurological phenotypes among mut° and mut− patients with methylmalonylCoA mutase deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Intellectual outcome in children with maple syrup urine disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Developmental profile of patients with maple syrup urine disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Clinically significant change: Jacobson and Truax (1991) revisited

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3362903

Benign methylmalonic aciduria

23 September 2018

1 reference

12 December 2020

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

1 reference

12 December 2020

Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

1 reference

12 December 2020

Combined liver-kidney transplantation in methylmalonic acidemia

1 reference

12 December 2020

Cognitive development and dietary therapy in phenylketonuric children

1 reference

12 December 2020

Perceptual Indices of Performance: The Measurement of ‘Inspection Time’ and ‘Noise’ in the Visual System

1 reference

12 December 2020

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

1 reference

12 December 2020

Identifiers

DOI

10.1542/PEDS.2011-1715

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

22614770

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22614770%20AND%20SRC:MED&resulttype=core&format=json