Radiological findings in mild forms of Morquio's disease (MPS 1V A)

Thomas, P. S.; Nelson, John W.; Nevin, N. C.

doi:10.1007/bf00451292

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…In all cases where the patient was alive at the time of the study, the diagnosis was confirmed by the appropriate enzyme assay. Clinical, biochemical, mutation analysis and radiological findings on many of the patients have already been described (Nelson 1986;Nelson and Grebbell 1987;Nelson and Kinirons 1988;Nelson and Thomas 1988;Nelson and Carson 1989;Kinirons and Nelson 1990;Nelson et al 1990; Thomas et al 1991;Nelson et al 1993;Yamada et al 1997).…”

Section: John Nelsonmentioning

confidence: 89%

Incidence of the mucopolysaccharidoses in Northern Ireland

1997

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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.

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