Evidence map›Paper›PMID 26937401›Full record

ArticleMolecular genetics and metabolism reports2015

Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant.

Leonor Arranz, Luis Aldamiz-Echevarria

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
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
0.6field-weighted citation impact, top 30% 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, 6 citations in OpenAlex.

  1. Trial
  2. 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

2 authors at 1 institution in 1 country.

Leonor ArranzPediatrics Department, Donostia Universitary Hospital, San Sebastian, Spain; Pediatrics Department, Faculty of Medicine, Basque Country University (UPV/EHU), San Sebastian, Spain.
Luis Aldamiz-EchevarriaPediatrics Department, Faculty of Medicine, Basque Country University (UPV/EHU), San Sebastian, Spain; Metabolism Unit, Cruces Universitary Hospital, Bilbao, Spain.
University of the Basque Country · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development.

Indexed as

6MWT, 6-minute walk testAnti-laronidase antibodiesEnzyme replacement therapyERT, Enzyme replacement therapyFEV0.5, forced expiratory volume in 0.5 sFVC, forced vital capacityGAGs, glycosaminoglycansHematopoietic transplantHSCT, hematopoietic stem cell transplantationHurler syndromeIV, intravenousLaronidaseMMEF, maximum midexpiratory flowMPS-I, mucopolysaccharidosis type IMRI, magnetic Resonance ImagingMSCA, McCarthy Scales of Children's AbilitiesMucopolysaccharosidosis type IORL, otorhinolaryngologyOSAHS, Obstructive Sleep Apnea–Hypopnea SyndromeTMT (A), Trail Making Test Part AWISC-IV, Wechsler Intelligence Scale for Children — IVX-ray, radiograph

Identifiers

PMID26937401
PMCPMC4750618
OpenAlexW2216662624

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.