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Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study.
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.
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