Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias (Q33592447)

28 July 2017

title

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias (English)

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28 July 2017

8

Nathalie Boddaert

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Florence Habarou

object named as

Florence Habarou

6

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Chris Ottolenghi

object named as

Chris Ottolenghi

2

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Vassili Valayannopoulos

3

object named as

Vassili Valayannopoulos

1 reference

28 July 2017

Jean-Paul Bonnefont

9

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author name string

Mathilde Nizon

1

1 reference

28 July 2017

Jean-Baptiste Arnoux

4

1 reference

28 July 2017

Valérie Barbier

5

1 reference

28 July 2017

Isabelle Desguerre

7

1 reference

28 July 2017

Cécile Acquaviva

10

1 reference

28 July 2017

Jean-François Benoist

11

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28 July 2017

Daniel Rabier

12

1 reference

28 July 2017

Guy Touati

13

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28 July 2017

Pascale de Lonlay

14

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28 July 2017

publication date

23 September 2013

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Orphanet Journal of Rare Diseases

28 July 2017

published in

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28 July 2017

volume

8

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28 July 2017

page(s)

148

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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

28 July 2017

cites work

1 reference

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Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

14 July 2018

1 reference

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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016503

Neurologic considerations in propionic acidemia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016503

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016503

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

14 July 2018

1 reference

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Methylmalonic and propionic aciduria

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016503

Methylmalonic and propionic acidaemias: management and outcome

14 July 2018

1 reference

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Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

14 July 2018

1 reference

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016503

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016503

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

14 July 2018

1 reference

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Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

14 July 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-148

Clinical variability of isovaleric acidemia in a genetically homogeneous population.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-148

Isovaleric acid reduces Na+, K+-ATPase activity in synaptic membranes from cerebral cortex of young rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-148

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

21 January 2018

1 reference

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24059531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24059531

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-148

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference