ArticleSultan Qaboos University medical journal2012
Spectrum of paediatric lysosomal storage disorders in oman.
Article in Sultan Qaboos University medical journal, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Epidemiology of Sanfilippo syndrome: results of a systematic literature review.Orphanet journal of rare diseases · 2018Pooled it
- Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China.Orphanet journal of rare diseases · 2024Article
- Lysosomal Storage Disorders in Egyptian Children.Indian journal of pediatrics · 2016Article
- Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.Sultan Qaboos University medical journal · 2013Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases. Few studies on the birth prevalence and prevalence of LSDs have been reported from the Arabian Peninsula.
methodsWe studied 86 children with LSDs diagnosed over a period of nine years, from June 1998 to May 2007. Detailed clinical data, including age of onset, sex, age and mode of first presentation, and presence of consanguinity were collected.
resultsOur data showed the combined birth prevalence for all LSDs in Oman to be around 1 in 4,700 live births. Sphingolipidoses was the most common group of disorder encountered (47.7%), followed by neuronal ceroid lipofuscinoses (NCL) (23.2%) and mucopolysaccharidoses (MPS) (23.2%). The proportion of consanguineous marriages in our series was found to be 87.5%.
conclusionOur data represent the birth prevalence and clinical spectrum of such disorders in Oman, one of the highly consanguineous societies in the Middle East.
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