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...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2023-01-01
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Series: | Respiratory Medicine Case Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007123000035 |