Zobrazeno 1 - 10
of 145
pro vyhledávání: '"Dihydropteridine reductase deficiency"'
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:
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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 2, Iss C, Pp 37-39 (2014)
We assessed the clinical characteristics and efficacy of neurotransmitters and levetiracetam in a patient with hyperphenylalaninemia due to dihydropteridine reductase (DHPR) deficiency who developed epileptic seizures. A boy with DHPR deficiency, who
Externí odkaz:
https://doaj.org/article/d6449756a5fa4cfe8fd598ad0f6befb7
Publikováno v:
Annals of Child Neurology, Vol 28, Iss 2, Pp 72-74 (2020)
Is It a Convulsion or Dopamine Deficiency? A Case of Epilepsy in Dihydropteridine Reductase Deficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c058ce91f6217092fd21bb625b5c26
https://doi.org/10.26815/acn.2019.00304
https://doi.org/10.26815/acn.2019.00304
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1987 May . 84(10), 3329-3333.
Externí odkaz:
https://www.jstor.org/stable/29387
Autor:
Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angels, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, R., Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya, Universitat Autònoma de Barcelona
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname
Universitat Autònoma de Barcelona
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname
Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. Hyperp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1fbcd11572781dcb0e21214e41bd5fa6
https://hdl.handle.net/2072/445695
https://hdl.handle.net/2072/445695
Autor:
Katrin Õunap, Ülle Murumets, Hardo Lilleväli, Ryan L. Collins, Kersti Lilleväli, Nenad Blau, Monica H. Wojcik, Julia K. Goodrich, Sander Pajusalu, Pille Tammur
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
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 of hyperp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a2e346554c73640a9f53c142e41335
https://doi.org/10.5167/uzh-196259
https://doi.org/10.5167/uzh-196259
Autor:
Syoichiro Kono, Hisashi Narai, Yumiko Nakano, Mahoko Furujo, Yoshiaki Takahashi, Koji Abe, Taijun Yunoki, Yasuhiro Manabe
Publikováno v:
Case Reports in Neurology, Vol 9, Iss 1, Pp 17-21 (2017)
Case Reports in Neurology
Case Reports in Neurology
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::140c27cd992374c35581b1a7a83141c1
http://www.karger.com/Article/FullText/456610
http://www.karger.com/Article/FullText/456610
Autor:
Georg F. Hoffmann, Toni S. Pearson, Birgit Assmann, Yilmaz Yildiz, Beat Thöny, Roser Pons, Elisenda Cortès-Saladelafont, Helly Goez, Francesco Porta, Marcel M. Verbeek, H. Serap Sivri, Sabine Scholl-Bürgi, Gabriella Horvath, Simon Heales, Tessa Wassenberg, Manju A. Kurian, Kathrin Jeltsch, Eduardo López-Laso, Thomas Opladen, Angeles Garcia-Cazorla, Oya Kuseyri Hübschmann, Jennifer Friedman, Jan Kulhánek, Rafael Artuch, Vincenzo Leuzzi, Mario Mastrangelo, Luc Régal, Simon Pope, Tomas Honzik, Alberto Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
BackgroundTetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4biosynthesis or recycl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0605a6e02a35c8c305cd624486cf4ef