Evidence map›Paper›PMID 27896113›Full record

ArticleMolecular genetics and metabolism reports2014

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

H Amartino, R Ceci, F Masllorens, A Gal, C Arberas, L Bay, R Ilari, J Dipierri, N Specola, A Cabrera and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.2field-weighted citation impact, top 44% 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

8 citing papers in PubMed, 15 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020
    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

11 authors at 11 institutions in 2 countries.

H AmartinoHospital Universitario Austral, Pilar, Argentina.
R CeciIIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, Argentina.
F MasllorensHospital Posadas, Buenos Aires, Argentina.
A GalUKE, Hamburgo, Germany.
C ArberasHospital de Niños Dr Ricardo Gutierrez, Buenos Aires, Argentina.
L BayHospital Garrahan, Buenos Aires, Argentina.
R IlariPoliclínico Bancario, Buenos Aires, Argentina.
J DipierriUniversidad Nacional de Jujuy, Argentina.
N SpecolaHospital de Niños Sor María Ludovica, La Plata, Argentina.
A CabreraHospital de Niños VJ Vilela, Rosario, Argentina.
P RozenfeldIIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, Argentina.
Central Bank of Argentina · ARConsejo Nacional de Investigaciones Científicas y Técnicas · ARGarrahan Hospital · ARHospital de Niños Superiora Sor María Ludovica · ARHospital General de Niños Ricardo Gutierrez · ARHospital Posadas · ARHospital Provincial de Rosario · ARHospital Universitario Austral · ARNational University of Jujuy · ARUniversidad Nacional de La Plata · ARUniversität Hamburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human

Indexed as

Genetic testingGenotype–phenotype correlationHunter syndromeLysosomal storage disorderMucopolysaccharidosis type II

Identifiers

PMID27896113
PMCPMC5121352
OpenAlexW2023670243

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.