Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency

Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L‐threo‐3,4‐dihydroxyphenylserine (L‐DOPS). We aimed to summarize clinical, biochemical, and genetic data of all world‐wide reported patients wit...

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Detalles Bibliográficos
Autores principales: Wassenberg, Tessa, Deinum, Jaap, van Ittersum, Frans J., Kamsteeg, Erik‐Jan, Pennings, Maartje, Verbeek, Marcel M., Wevers, Ron A., van Albada, Mirjam E., Kema, Ido P., Versmissen, Jorie, van den Meiracker, Ton, Lenders, Jacques W.M., Monnens, Leo, Willemsen, Michèl A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8246878/
https://www.ncbi.nlm.nih.gov/pubmed/33034372
http://dx.doi.org/10.1002/jimd.12321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8246878/
https://www.ncbi.nlm.nih.gov/pubmed/33034372
http://dx.doi.org/10.1002/jimd.12321

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