Article
Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina.
Medicina - 1 Jan 2022
Terada Claudia, Mirarchi Federico, Marino Roxana, Eiroa Hernán, Berensztein Esperanza
Abstract excerpt
Niemann-Pick type C (NP-C) is a rare, autosomal recessive disorder. At least 95% of all the cases with this disease are due to mutations in the NPC1 gene. The clinical signs and symptoms of NP-C are classified into visceral, neurological and psychiatric. Our aim is to report the clinical findings, molecular results and filipin staining of 4 patients. The age of onset, expressed as median and range, was 0.2...
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