Výsledky vyhledávání - "Dopamine beta hydroxylase deficiency"

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

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Inherited Metabolic Diseases

Autor: Radha Ramachandran

Publikováno v: Postural Tachycardia Syndrome ISBN: 9783030541644

Inherited Metabolic Diseases (IMD) (or inborn errors of metabolism) are a group of monogenic disorders that occur as a result of impairment in enzyme activity in one or more metabolic pathways. Autonomic dysfunction and impaired glucose homeostasis,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4f213eb914944b39dd87190ec5b8f748
https://doi.org/10.1007/978-3-030-54165-1_22

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Akademický článek

The selective neurotoxin DSP-4 impairs the noradrenergic projections from the locus coeruleus to the inferior colliculus in rats.

Autor: Sebastián eHormigo, José de Anchieta de Castro e Horta Junior, Ricardo eGómez-Nieto, Dolores E López García

Publikováno v: Frontiers in Neural Circuits, Vol 6 (2012)

The inferior colliculus (IC) and the locus coeruleus (LC) are two midbrain nuclei that integrate multimodal information and play a major role in novelty detection to elicit an orienting response. Despite the reciprocal connections between these two s

Externí odkaz: https://doaj.org/article/e91dc212660e428cb4be6aed33608160

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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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Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension

Autor: Tessa Wassenberg, Michèl Willemsen, Henry Dijkman, Jaap Deinum, Leo Monnens

Publikováno v: Pediatric Nephrology, 32, 1171-1174
Pediatric Nephrology (Berlin, Germany)
Pediatric Nephrology, 32, 7, pp. 1171-1174

Contains fulltext : 174487.pdf (Publisher’s version ) (Open Access) 01 juli 2017

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcb14810271cba70a15d2c1b10ec192c
https://biblio.vub.ac.be/vubir/(743361ad-ffe2-48fb-bd25-64ce6cfa449f).html

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Hypnotic Hypersensitivity to Volatile Anesthetics and Dexmedetomidine in Dopamine β-Hydroxylase Knockout Mice

Autor: George Hanna, Max B. Kelz, Steven A. Thomas, Frances Y. Hu, Abraham J. Wyner, Feras Mardini, Wei Han

Publikováno v: Anesthesiology. 117:1006-1017

Background Multiple lines of evidence suggest that the adrenergic system can modulate sensitivity to anesthetic-induced immobility and anesthetic-induced hypnosis as well. However, several considerations prevent the conclusion that the endogenous adr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ec8b5d9d0a85617e2ca088e42c80213
https://doi.org/10.1097/aln.0b013e3182700ab9

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Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions

Autor: Leo A. H. Monnens, Tessa Wassenberg, Jaap Deinum, Henry B.P.M. Dijkman, Michèl A.A.P. Willemsen

Publikováno v: Pediatric Nephrology, 32, 1169-1170
Pediatric Nephrology, 32, 7, pp. 1169-1170
Pediatric Nephrology (Berlin, Germany)

Contains fulltext : 174488.pdf (Publisher’s version ) (Open Access) 01 juli 2017

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9601e8856624e1de8982341c08ad7063
https://doi.org/10.1007/s00467-016-3494-2

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Norepinephrine Deficiency Is Caused by Combined Abnormal mRNA Processing and Defective Protein Trafficking of Dopamine β-Hydroxylase

Autor: Satish R. Raj, Eungi Yang, Italo Biaggioni, David Robertson, Emily M. Garland, Kwang-Soo Kim, Yang Hoon Huh, Dongwook Kim, Amanda Leung, Deog-Joong Kim, Kyungjin Kim, Chun-Hyung Kim, Hoon Ryu, Pierre Leblanc

Publikováno v: Journal of Biological Chemistry. 286:9196-9204

Human norepinephrine (NE) deficiency (or dopamine β-hydroxylase (DBH) deficiency) is a rare congenital disorder of primary autonomic failure, in which neurotransmitters NE and epinephrine are undetectable. Although potential pathogenic mutations, su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd46c276fe782117b28dd9292a1211df
https://doi.org/10.1074/jbc.m110.192351

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Increased basement membrane thickness, pericyte ghosts, and loss of retinal thickness and cells in dopamine beta hydroxylase knockout mice

Autor: Steven A. Thomas, Christopher P. Smith, Lisa S. McFadyen-Ketchum, Timothy S. Kern, Jena J. Steinle

Publikováno v: Experimental Eye Research. 88:1014-1019

Diabetes can cause damage to sympathetic nerves, and we have previously shown that experimental sympathectomy can produce capillary abnormalities in the retina similar to those seen in early diabetes. We postulate that the diabetes-induced loss of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49b394e8f31f15c70b671faaf7a4554
https://doi.org/10.1016/j.exer.2008.12.015

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Effects of disulfiram and dopamine beta-hydroxylase knockout on cocaine-induced seizures

Autor: Martin A. Javors, Meriem Gaval-Cruz, L. Cameron Liles, David Weinshenker, Jason P. Schroeder

Publikováno v: Pharmacology Biochemistry and Behavior. 89:556-562

The antialcoholism drug disulfiram has shown recent promise as a pharmacotherapy for treating cocaine dependence, probably via inhibition of dopamine beta-hydroxylase (DBH), the enzyme that catalyzes the conversion of dopamine (DA) to norepinephrine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e15988ce75a860d35c024526330c341
https://doi.org/10.1016/j.pbb.2008.02.009

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