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AlSayed, Moeenaldeen; Arafa, Dia; Al-Khawajha, Huda; Afqi, Manal; Al-Sanna'a, Nouriya; Sunbul, Rawda; Faden, Maha
Orphanet journal of rare diseases, 07/2024, Volume: 19, Issue: 1Journal Article
Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating clinical manifestations. These conditions are thought to have higher-than-average prevalence rates in Saudi Arabia due to high rates of consanguineous marriage in the country. There are several unmet needs associated with the management of these diseases in Saudi Arabia. The consensus statements presented provide specific recommendations to improve diagnostic and treatment approaches, promote multidisciplinary care and data sharing, and optimize the overall management of these rare inherited diseases in Saudi Arabia.
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