Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria

Homocystinuria (HCU) is a rare autosomal recessive inherited disorder usually diagnosed in childhood. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. The accumulation of homocysteine leads to abnormalities in the ocular, skeletal, cardiovascular, and ce...

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Detalles Bibliográficos
Autores principales: Suliman, Aasir M., Alamin, Mohamed A., Hamza, Maha M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841048/
https://www.ncbi.nlm.nih.gov/pubmed/36655006
http://dx.doi.org/10.1016/j.rmcr.2023.101808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841048/
https://www.ncbi.nlm.nih.gov/pubmed/36655006
http://dx.doi.org/10.1016/j.rmcr.2023.101808

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