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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

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