| Title |
Incidence of the mucopolysaccharidoses in Northern Ireland
|
|---|---|
| Published in |
Human Genetics, December 1997
|
| DOI | 10.1007/s004390050641 |
| Pubmed ID | |
| Authors |
J. Nelson |
| Abstract |
An epidemiological study of the mucopolysaccharidoses (MPS) in Northern Ireland using multiple ascertainment sources was carried out and the incidence rate for the period 1958-1985 was estimated. An incidence of approximately 1 in 76,000 live births was obtained for MPS 1H (Hurler phenotype); 1 in 280,000 for MPS 1 H/S (Hurler/Scheie phenotype); 1 in 140,000 live births (1 in 72,000 male live births) for MPS II (Hunter syndrome); 1 in 280,000 for MPS III (Sanfilippo syndrome) and 1 in 76,000 for MPS IV A (Morquio syndrome type A). No cases of MPS IS (Scheie phenotype), MPS IV B (Morquio syndrome type B) or MPS VI (Maroteaux-Lamy syndrome) were ascertained during the study period. Three cases of non-immune hydrops fetalis born to consanguineous parents were thought to be due to beta-glucuronidase deficiency (MPS VII) on the basis of placental histology and enzyme studies on both parents but no living cases of MPS VII were ascertained. The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 25,000 live births. A comparison is made with incidence estimates obtained from other published studies. |
Mendeley readers
The data shown below were compiled from readership statistics for 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Colombia | 1 | 2% |
| Unknown | 64 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 11 | 17% |
| Student > Bachelor | 9 | 14% |
| Researcher | 8 | 12% |
| Other | 7 | 11% |
| Student > Master | 6 | 9% |
| Other | 11 | 17% |
| Unknown | 13 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 23% |
| Biochemistry, Genetics and Molecular Biology | 12 | 18% |
| Agricultural and Biological Sciences | 9 | 14% |
| Pharmacology, Toxicology and Pharmaceutical Science | 4 | 6% |
| Chemistry | 3 | 5% |
| Other | 9 | 14% |
| Unknown | 13 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 September 2023.
All research outputs
#5,446,994
of 25,374,647 outputs
Outputs from Human Genetics
#515
of 2,957 outputs
Outputs of similar age
#7,957
of 94,540 outputs
Outputs of similar age from Human Genetics
#3
of 26 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,957 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one has gotten more attention than average, scoring higher than 74% of its peers.
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We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.