Evidence map›Paper›PMID 26937393›Full record

ArticleMolecular genetics and metabolism reports2015

Angelman syndrome and isovaleric acidemia: What is the link?

Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff

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In one paragraph

Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Organic acid disorders.Annals of translational medicine · 2018
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 5 institutions in 2 countries.

Alix LambrechtKatholieke Universiteit Leuven, Leuven, Belgium; Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
Samia PichardReference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
Hélène MaureyDepartment of Child Neurology, Hôpital Bicêtre, APHP, Le Kremlin Bicêtre, France.
Nuria Garcia SegarraReference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France.
Séverine DrunatDepartment of Genetics, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
Cécile Acquaviva-BourdainLaboratory of Metabolic Biochemistry, HFME, HCL, Bron, France.
Sandrine PassemardDepartment of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Department of Genetics, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
Jean-François BenoistReference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Laboratory of Metabolic Biochemistry, Hôpital Robert Debré, APHP, Paris, France.
Anne-Laure Fauret-AmsellemDepartment of Genetics, Hôpital Robert Debré, APHP, Paris, France.
Manuel SchiffReference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
Hôpital Robert-Debré · FRAssistance Publique – Hôpitaux de Paris · FRBicêtre Hospital · FRDélégation Paris 7 · FRHôpital Femme Mère Enfant · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.

Indexed as

Angelman syndromeIsovaleric acidemiaUniparental disomy of chromosome 15

Identifiers

PMID26937393
PMCPMC4750580
OpenAlexW2065523943

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.