الباحثون

Amna M. Alfutaisi

المنشورات 2

مقال بحثي وصول مفتوح

Spectrum of Paediatric Lysosomal Storage Disorders in Oman

Almundher A. Al-Maawali, Surendra N. Joshi, Roshan L. Al-Maawali وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1379

Objectives: The 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. Methods: We stu …

مقال بحثي وصول مفتوح

Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases

روشان كول, Fathiya M. Al-Murshedi, Faisal M. Mani وآخرون · مجلة جامعة السلطان قابوس الطبية · 2025 · 10.18295/2075-0528.1491

Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tr …

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