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The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Genetic syndromes in paediatric alopecia areata: a systematic review.
Acute effects of 50 mg additive oral sildenafil on invasive exercise haemodynamics in pulmonary vascular disease.
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.
A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years.