Translation of "Cystinose" into English
cystinosis is the translation of "Cystinose" into English.
Cystinose
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cystinosis
nounA lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17.
Die Cystinose der Erwachsenen ist eine gutartige Variante.
In adults, cystinosis is seen as a completely benign variant.
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