ArticleJournal of inherited metabolic disease2005
Cumulative incidence rates of the mucopolysaccharidoses in Germany.
Article in Journal of inherited metabolic disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01675674 (Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population), which is not on this map. Cited by 153 papers, 6 of them syntheses that pooled it.
What it found
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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.
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.
Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population
Who cites it
153 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.Journal of inherited metabolic disease · 2018Pooled it
- Epidemiology of Sanfilippo syndrome: results of a systematic literature review.Orphanet journal of rare diseases · 2018Pooled it
- Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.Orphanet journal of rare diseases · 2014Pooled it
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet journal of rare diseases · 2011Guideline
- Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.Orphanet journal of rare diseases · 2011Guideline
- Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase.Orphanet journal of rare diseases · 2026Trial
- A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT.Orphanet journal of rare diseases · 2023Trial
- Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.Journal of inherited metabolic disease · 2016Trial
- Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA.The Journal of pediatrics · 2014Trial
- Does enzyme replacement therapy influence the ocular changes in type VI mucopolysaccharidosis?Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2009Trial
- Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B.International journal of molecular sciences · 2026Article
- Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.Head & face medicine · 2025Article
- Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.World journal of clinical pediatrics · 2025Article
- Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry.World journal of clinical pediatrics · 2025Article
- The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.Turkish archives of pediatrics · 2025Article
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- Respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report.International cancer conference journal · 2024Article
- Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.Orphanet journal of rare diseases · 2024Article
93 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100,000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100,000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100,000; and that for MPS VI (Maroteaux-Lamy syndrome) as 0.23 cases per 100,000 births. Two cases of MPS IVB (beta-galactosidase deficiency) have been identified, but no patients with MPS VII or MPS IX. A relatively high number of patients with MPS IIIB, MPS IVA and MPS VI were of Turkish origin. The crude rate for all types of mucopolysaccharidoses is approximately 3.53 cases in 100,000 live births. The cumulative incidence pattern of MPS in Germany was compared with the corresponding rates among other industrial nations obtained from recent literature: the crude cumulative rates for all types of mucopolysaccharidoses (3.4-4.5 in 100,000 live births) were similar among all published populations; however, different frequencies of the various forms of MPS were observed.
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Registered trials
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.