Evidence map›Paper›PMID 19685154›Full record

ReviewJournal of inherited metabolic disease2009

Mental retardation and inborn errors of metabolism.

A García-Cazorla, N I Wolf, M Serrano, U Moog, B Pérez-Dueñas, P Póo, M Pineda, J Campistol, G F Hoffmann

Open access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
2.7field-weighted citation impact, top 12% 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

21 citing papers in PubMed, 67 citations in OpenAlex.

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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

9 authors at 4 institutions in 3 countries.

A García-CazorlaNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. agarcia@hsjdbcn.org.
N I WolfNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
M SerranoNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
U MoogNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
B Pérez-DueñasNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
P PóoNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
M PinedaNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
J CampistolNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
G F HoffmannNeurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Hospital Sant Joan de Déu Barcelona · ESInstituto de Salud Carlos III · ESCentre for Biomedical Network Research on Rare Diseases · ESUniversity Hospital Heidelberg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.

Indexed as

AlgorithmsHumansInfant, NewbornIntellectual DisabilityMetabolism, Inborn ErrorsNeonatal ScreeningPractice Guidelines as Topic

Identifiers

PMID19685154
OpenAlexW2053393320

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.