Preventive use of nitisinone in alkaptonuria

Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention studies with nitisinone 10 mg daily, suppress...

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Detalles Bibliográficos
Autores principales: Wolffenbuttel, Bruce H. R., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8336241/
https://www.ncbi.nlm.nih.gov/pubmed/34344451
http://dx.doi.org/10.1186/s13023-021-01977-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8336241/
https://www.ncbi.nlm.nih.gov/pubmed/34344451
http://dx.doi.org/10.1186/s13023-021-01977-0

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