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

Publikováno v: Journal of Inherited Metabolic Disease. 44(3):554-565

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 ge

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https://research.rug.nl/en/publications/ade100e3-54e8-48c3-9b82-abc9ab1d632e

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

Autor: Ido P. Kema, Leo A. H. Monnens, Marcel M. Verbeek, Mirjam E. van Albada, Ton H. van den Meiracker, Tessa Wassenberg, Jorie Versmissen, Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Jaap Deinum, Jacques W.M. Lenders, Maartje Pennings, Frans J. van Ittersum, Ron A. Wevers

Publikováno v: Journal of Inherited Metabolic Disease, 44, 554-565
Wassenberg, T, Deinum, J, van Ittersum, F J, Kamsteeg, E-J, Pennings, M, Verbeek, M M, Wevers, R A, van Albada, M E, Kema, I P, Versmissen, J, van den Meiracker, T, Lenders, J W M, Monnens, L & Willemsen, M A 2021, ' Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency ', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 554-565 . https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease, 44, 3, pp. 554-565
Journal of Inherited Metabolic Disease

Contains fulltext : 234019.pdf (Publisher’s version ) (Open Access) 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-dihydroxyphen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b58907bc3077eda89a2ffb570682fa
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/234019

Neurocognitive function in dopamine-beta-hydroxylase deficiency

Autor: Sander Nieuwenhuis, Christopher L. Asplund, Marieke Jepma, Jaap Deinum, Jacques W.M. Lenders, Emily M. Garland, David Robertson, Nathanja Tjeerdema, Jouke T. Tamsma, Michiel M. Spapé, Serge A.R.B. Rombouts

Publikováno v: Neuropsychopharmacology, 36(8), 1608-1619
Neuropsychopharmacology, 36, 1608-19
Neuropsychopharmacology, 36, 8, pp. 1608-19

Dopamine-beta-hydroxylase (D beta H) deficiency is a rare genetic syndrome characterized by the complete absence of norepinephrine in the peripheral and the central nervous system. D beta H-deficient patients suffer from several physical symptoms, wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca6ddd19e5251e59fcd7463428a07862
https://doi.org/10.1038/npp.2011.42

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