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Malgorzata Szaroszyk

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Review Open access Sep 2026

Cystinosis-associated metabolic bone disease: pathogenesis and outcome.

Cystinosis-associated metabolic bone disease (CMBD) is a severe complication in patients with infantile nephropathic cystinosis, which is a rare inherited lysosomal storage disease due to pathogenic variants in the CTNS gene that results in an accumulation of cystine in all organs. The kidneys are the organs primarily...

Anne Schön, Malgorzata Szaroszyk, Dieter Haffner · 0 citations

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