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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...
Autores principales: | Takaldani, Ali Hossein Samadi, Javanshir, Nima, Salimi, Maryam, Negaresh, Mohammad |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
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 |
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