Pulmonary dysfunction in children with Cystinosis: single center study, original article
Abstract Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. The disease results in intracellular accumulation of cystine in all organs and tissues. Pulmonary complications t...
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SpringerOpen,
2022-02-01T00:00:00Z.
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