Evidence map›Paper›PMID 18392742›Full record

ReviewJournal of inherited metabolic disease2008

Sanfilippo syndrome: a mini-review.

M J Valstar, G J G Ruijter, O P van Diggelen, B J Poorthuis, F A Wijburg

Abstract readReview
PubMed Publisher
In one paragraph

Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 179 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
179citing papers in PubMed, 4 pooled it
9.3field-weighted citation impact, top 1% 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

179 citing papers in PubMed, 4 syntheses or guidelines pooled it, 400 citations in OpenAlex.

  1. Pooled it
  2. Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2019
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Trial
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Observational
  14. Economic burden of Sanfilippo syndrome in the United States.Archives of public health = Archives belges de sante publique · 2025
    Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

119 more citing papers are in PubMed but not listed here.

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

5 authors at 3 institutions in 1 country.

M J ValstarDepartment of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
G J G Ruijter
O P van Diggelen
B J Poorthuis
F A Wijburg
Academic Medical Center · NLErasmus MC · NLUniversity of Amsterdam · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. Based on the enzyme deficiency, four different subtypes, MPS IIIA, B, C, and D, are recognized. The genes encoding these four enzymes have been characterized and various mutations have been reported. The probable diagnosis of all MPS III subtypes is based on increased concentration of heparan sulfate in the urine. Enzymatic assays in leukocytes and/or fibroblasts confirm the diagnosis and allow for discrimination between the different subtypes of the disease. The clinical course of MPS III can be divided into three phases. In the first phase, which usually starts between 1 and 4 years of age, a developmental delay becomes apparent after an initial normal development during the first 1-2 years of life. The second phase generally starts around 3-4 years and is characterized by severe behavioural problems and progressive mental deterioration ultimately leading to severe dementia. In the third and final stage, behavioural problems slowly disappear, but motor retardation with swallowing difficulties and spasticity emerge. Patients usually die at the end of the second or beginning of the third decade of life, although survival into the fourth decade has been reported. Although currently no effective therapy is yet available for MPS III, several promising developments raise hope that therapeutic interventions, halting the devastating mental and behavioural deterioration, might be feasible in the near future.

Indexed as

AcetylglucosaminidaseAcetyltransferasesAdolescentAdultAnimalsChildChild, PreschoolGenetic Predisposition to DiseaseHeparan SulfateHumansHydrolasesIncidenceInfantLysosomesMucopolysaccharidosis IIIPhenotypeAcetylglucosaminidaseAcetyltransferasesalpha-N-acetyl-D-glucosaminidaseHeparan SulfateHGSNAT protein, humanHydrolasesN-acetylglucosamine-6-sulfataseN-sulfoglucosamine sulfohydrolaseSulfatases

Identifiers

PMID18392742
OpenAlexW1983941630

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.