Zobrazeno 1 - 10
of 1 265
pro vyhledávání: '"Dihydropteridine reductase deficiency"'
Autor:
Ribeiro M; Unidade de Neuropediatria, Área de Pediatria, Centro Hospitalar Universitário de Lisboa Central., Rebelo M; Unidade de Neuropediatria, Área de Pediatria, Centro Hospitalar Universitário de Lisboa Central., Pereira A; Unidade de Neuropediatria, Área de Pediatria, Centro Hospitalar Universitário de Lisboa Central., Antunes D; Centro de Referência de Doenças hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Central.; Serviço de Genética, Área de Pediatria, Centro Hospitalar Universitário de Lisboa Central., Ferreira AC; Centro de Referência de Doenças hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Central., Jacinto S; Unidade de Neuropediatria, Área de Pediatria, Centro Hospitalar Universitário de Lisboa Central.; Centro de Referência de Doenças hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Central.
Publikováno v:
Endocrine, metabolic & immune disorders drug targets [Endocr Metab Immune Disord Drug Targets] 2023 Nov 08. Date of Electronic Publication: 2023 Nov 08.
Autor:
Lilleväli, Hardo1,2 (AUTHOR), Pajusalu, Sander1,3,4 (AUTHOR), Wojcik, Monica H.5,6 (AUTHOR), Goodrich, Julia5,6 (AUTHOR), Collins, Ryan L.5,7 (AUTHOR), Murumets, Ülle1 (AUTHOR), Tammur, Pille1 (AUTHOR), Blau, Nenad8,9 (AUTHOR), Lilleväli, Kersti2 (AUTHOR), Õunap, Katrin1,4,5 (AUTHOR) katrin.ounap@kliinikum.ee
Publikováno v:
Molecular Genetics & Genomic Medicine. Apr2020, Vol. 8 Issue 4, p1-8. 8p.
Autor:
Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Dihydropteridine reductase (DHPR) is one of the key enzymes for maintaining in the organism the supply of tetrahydrobiopterin (BH4), an essential cofactor for aromatic amino acid hydroxylases. Its dysfunction causes the condition
Externí odkaz:
https://doaj.org/article/37a56a2eb2774d13ab3875744ea30e23
Autor:
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 19-24 (2021)
Abstract Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine
Externí odkaz:
https://doaj.org/article/7b828b4eb5b847499bedf6164e4f39a5
Autor:
Nicola Vitturi, Livia Lenzini, Concetta Luisi, Miryam Carecchio, Giorgia Gugelmo, Francesco Francini‐Pesenti, Angelo Avogaro
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 48-51 (2021)
Abstract We report the case of a 22‐year‐old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L‐Dopa supplementation the patient continued to show high pro
Externí odkaz:
https://doaj.org/article/63c13639999841ec97321e78fa369947
Autor:
Yoshiaki Takahashi, Yasuhiro Manabe, Yumiko Nakano, Taijun Yunoki, Syoichiro Kono, Hisashi Narai, Mahoko Furujo, Koji Abe
Publikováno v:
Case Reports in Neurology, Vol 9, Iss 1, Pp 17-21 (2017)
We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HT
Externí odkaz:
https://doaj.org/article/f0c6d8276b084be4978dda12b9472a5e
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Kniha
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Autor:
Takahashi, Yoshiaki1, Manabe, Yasuhiro1 ymanabe@okayamamc.jp, Nakano, Yumiko1, Yunoki, Taijun1, Kono, Syoichiro1, Narai, Hisashi1, Furujo, Mahoko2, Abe, Koji3
Publikováno v:
Case Reports in Neurology. Jan-Apr2017, Vol. 9 Issue 1, p17-21. 5p.
Publikováno v:
Annals of Child Neurology, Vol 28, Iss 2, Pp 72-74 (2020)
Externí odkaz:
https://doaj.org/article/cdccecf9961e4aaa85beb6563fa1bf52