A case of Hermansky-Pudlak with dyspnea

Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder inherited in an autosomal recessive manner. Its prevalence is 1 in 500 000 to 1 000 000 people worldwide. The cause of this disorder is genetic mutations that lead to defective organelles of lysosomes. In this report, a 49-year-old man i...

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Detalles Bibliográficos
Autores principales: Takaldani, Ali Hossein Samadi, Javanshir, Nima, Salimi, Maryam, Negaresh, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9969820/
https://www.ncbi.nlm.nih.gov/pubmed/36860960
http://dx.doi.org/10.1093/omcr/omad001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9969820/
https://www.ncbi.nlm.nih.gov/pubmed/36860960
http://dx.doi.org/10.1093/omcr/omad001

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