Browse Items (6 total)

Background: Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African…

Aim: No studies have described long-term paediatric home respiratory support in Nordic countries. We examined the clinical characteristics and long-term outcomes of paediatric patients who received continuous positive airway pressure,…

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