The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease

Background. Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene. We present a patient who was diagnosed with CF and later diagnosed with Niemann-Pick type-A (NPA) disease, which is an...

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Bibliographic Details
Main Authors: Aslı İmran Yılmaz, Betül Uğurlu, Gökçen Ünal, Hüseyin Tokgöz, Sevgi Pekcan
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2022-12-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/257
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