المؤلفون: Mario Cornejo-Olivas, Pilar Mazzetti, Luis Torres-Ramírez, Luis Urbina-Ramírez, Carlos Cosentino-Esquerre, Wilfor Aguirre-Quispe, Jorge La Serna-Infantes, Karol Solórzano-Palacios, Elison Sarapura-Castro, Laura Zelada-Ríos

المصدر: Revista de Neuro-Psiquiatria. 85:38-54

مصطلحات موضوعية: tyrosine hydroxylase deficiency, tetrahidrobiopterina, tetrahydrobiopterin, Enfermedad de Segawa, Distonías respondedoras a levodopa, GTP-cyclohydrolase 1 deficiency, General Agricultural and Biological Sciences, Dopa-responsive dystonia, deficiencia de GTP-ciclohidrolasa 1, deficiencia de tirosina hidroxilasa, Segawa disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5675dd6baa36c2d7fa3956cfecc7be21
https://doi.org/10.20453/rnp.v85i1.4154

المؤلفون: Matthew Martin, Katrin Beyer, Juan Luis Pérez-Navero, Eduardo López-Laso, Matias Mora, L. González Gutierrez-Solana, J. Martínez-Ruiz, J. Hernandez-Vara, M. Llorente, Á. García Cazorla, Juan-Luis Ramos, Rafael Artuch, María José de la Torre-Aguilar, J. Serrano Cárdenas, Pablo Mir, Beatriz Quintáns, M.J. Sobrido Gómez, A. Adarmes, J.J. Ochoa Sepúlveda, M.D. Teva, C. Castaño-de la Mota, J.C. Gómez-Esteban, Joaquín A. Fernández-Ramos, E. Moreno-Medinilla

المصدر: Parkinsonism & Related Disorders. 94:67-78

مصطلحات موضوعية: GTPCH, Pediatrics, medicine.medical_specialty, Levodopa, Dopamine, Parkinson's disease, Decarboxylase inhibitor, Pedigree chart, Disease, Autosomal dominant Segawa disease, Parkinsonism, medicine, Humans, Founder mutation, GTP Cyclohydrolase, Adverse effect, Retrospective Studies, Dystonia, Dyskinesias, business.industry, medicine.disease, Dopa-responsive dystonia, Autosomal dominant GTPCH deficiency, Treatment Outcome, Neurology, Dystonic Disorders, Spain, Cohort, Neurology (clinical), Geriatrics and Gerontology, business, GCH1, Founder effect, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75a8c227ec6aa98459dbd98688830544
https://doi.org/10.1016/j.parkreldis.2021.11.014

المؤلفون: López-Laso, Eduardo, Sánchez Raya, Araceli, Moriana Elvira, Juan Antonio, Martínez Gual, Eduardo, Camino-León, Rafael, Mateos-González, María Elena, Pérez Navero, Juan Luis, Ochoa Sepúlveda, Juan J., Ormazabal, Aida, Opladen, Thomas, Klein, Christine, Lao-Villadóniga, José Ignacio, Beyer, Katrin, Artuch, Rafael

المصدر: López-Laso, E., Sánchez-Raya, A., Moriana, J.A. et al. Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. J Neurol 258, 2155–2162 (2011).

مصطلحات موضوعية: Dopa-responsive dystonia, Segawa disease, Guanosine triphosphate cyclohydrolase I deficiency, IQ, Neuropsychiatric symptoms

وصف الملف: application/pdf

Relation: https://doi.org/10.1007/s00415-011-6079-9; http://hdl.handle.net/10396/28580

الاتاحة: http://hdl.handle.net/10396/28580

المساهمون: Kim, Heung Dong

مصطلحات موضوعية: Segawa disease, Dopa-responsive dystonia, GTP cyclohydrolase I, Neopterin

وصف الملف: 99~104

Relation: Journal of the Korean Child Neurology Society (���븳�냼�븘�떊寃쏀븰�쉶吏�); J01815; OAK-2004-00203; https://ir.ymlib.yonsei.ac.kr/handle/22282913/111445; http://scholar.dkyobobook.co.kr/searchDetail.laf?barcode=4010022736948; T200400172; Journal of the Korean Child Neurology Society (���븳�냼�븘�떊寃쏀븰�쉶吏�), Vol.12(1) : 99-104, 2004

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/111445
http://scholar.dkyobobook.co.kr/searchDetail.laf?barcode=4010022736948

المساهمون: 論文, 関西福祉科学大学健康福祉学部, 大阪市立大学大学院医学研究科発達小児医学

المصدر: 関西福祉科学大学紀要 = Journal of Kansai University of Welfare Sciences. 20:91-98

مصطلحات موضوعية: グアノシン三リン酸シクロヒドロラーゼ, ネオプテリン, doparesponsive dystonia, guanosine 5’triphosphate cyclohydrolase I, Neopterin, ドーパ反応性ジストニア, 瀬川病, Segawa disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::d783bb237baf65959f72bf75a0ced7f1
http://id.nii.ac.jp/1059/00001614/

المؤلفون: Beomseok Jeon, Ryul Kim, Woong-Woo Lee

المصدر: Journal of Korean Medical Science

مصطلحات موضوعية: 0301 basic medicine, Neurology & Neuroscience, Degenerative Disorder, Dopamine, Segawa Disease, Dystonia, Dopa-responsive, Review Article, Vesicular monoamine transporter 2, Group VI Phospholipases A2, Levodopa, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Parkinsonian Disorders, medicine, Humans, Dopamine transporter, Dystonia, Dopamine Plasma Membrane Transport Proteins, DRD-plus, biology, business.industry, Dopaminergic, Proteins, General Medicine, medicine.disease, nervous system diseases, 030104 developmental biology, Dystonic Disorders, Ataxia-telangiectasia, Spinocerebellar ataxia, biology.protein, DRD Look-alike, Carrier Proteins, business, Neuroscience, 030217 neurology & neurosurgery, Molecular Chaperones, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6b2ae45d3670946762012b812002c9
https://doi.org/10.3346/jkms.2018.33.e184

المؤلفون: LEUZZI, Vincenzo, CARDUCCI, Claudia, D'AGNANO, DANIELA, ANTONOZZI, Italo, CARDUCCI, Carla, Flavia Chiarotti, Maria Teresa Giannini

المساهمون: Leuzzi, Vincenzo, Carducci, Claudia, Flavia, Chiarotti, D'Agnano, Daniela, Maria Teresa, Giannini, Antonozzi, Italo, Carducci, Carla

مصطلحات موضوعية: diagnosis of segawa disease, early onset dystonia in childhood, segawa disease

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/isbn/9783642324413; info:eu-repo/semantics/altIdentifier/isbn/9783642324420; info:eu-repo/semantics/altIdentifier/pmid/23430498; info:eu-repo/semantics/altIdentifier/wos/WOS:000315960400012; volume:7; firstpage:67; lastpage:75; numberofpages:9; journal:JIMD REPORTS; http://hdl.handle.net/11573/488759; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85002254057; http://x.doi.org/10.1007/8904_2012_144

الاتاحة: http://hdl.handle.net/11573/488759
https://doi.org/10.1007/8904_2012_144

المؤلفون: D'AGNANO, DANIELA, CARDUCCI, Claudia, CARDUCCI, Carla, LEUZZI, Vincenzo

المساهمون: D'Agnano, Daniela, Carducci, Claudia, Carducci, Carla, Leuzzi, Vincenzo

مصطلحات موضوعية: gtp-ch deficiency, segawa disease, socio, psy

Relation: http://hdl.handle.net/11573/481876

الاتاحة: http://hdl.handle.net/11573/481876

المصدر: 東京女子医科大学雑誌. 83(Extra2):E663-E665

مصطلحات موضوعية: cerebral palsy, hereditary progressive dystonia, L-dopa, diurnal fluctuation, Segawa disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::26f4047a7aaf9cbc4f740d9ad8f66f2e
http://hdl.handle.net/10470/30106

المؤلفون: Yih Ru Wu, Yi Ching Weng, Chun Chieh Wang

المصدر: Brain and Behavior

مصطلحات موضوعية: onset age, Adult, Male, 0301 basic medicine, Dopa-Responsive Dystonia, Levodopa, Pediatrics, medicine.medical_specialty, Dopamine Agents, Drug Resistance, Taiwan, Review, dopa‐responsive dystonia, Disease, parkinsonian, Diurnal fluctuation, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Humans, Medicine, Age of Onset, Botulinum Toxins, Type A, GTP Cyclohydrolase, Segawa disease, Dystonia, atypical presentation, business.industry, Parkinsonism, Parkinson Disease, medicine.disease, Pedigree, nervous system diseases, Treatment Outcome, 030104 developmental biology, Neuromuscular Agents, Dystonic Disorders, Male patient, Mutation, Presentation (obstetrics), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e073eddca4efd2d3e6c8618e666cb84
https://doi.org/10.1002/brb3.906

المصدر: Brain & development. 31(2):173-175

مصطلحات موضوعية: Exon 5, GTP Cyclohydrolase I, Hereditary progressive dystonia, Missense mutation, Segawa disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::691eb483412c2358769701b46234fdfd
http://hdl.handle.net/10458/1962

المؤلفون: 村上 てるみ, 西村 敏, 舟塚 真, 新宅 治夫, 一瀬 宏, 大澤 眞木子

مصطلحات موضوعية: cerebral palsy, Segawa disease, diurnal fluctuation, hereditary progressive dystonia, L-dopa

Relation: https://twinkle.repo.nii.ac.jp/?action=repository_uri&item_id=22613; http://hdl.handle.net/10470/30106; AN00161368; 東京女子医科大学雑誌, 83(Extra2), E663-E665(2013-07-31); https://twinkle.repo.nii.ac.jp/?action=repository_action_common_download&item_id=22613&item_no=1&attribute_id=22&file_no=1

الاتاحة: http://hdl.handle.net/10470/30106
https://twinkle.repo.nii.ac.jp/?action=repository_uri&item_id=22613
https://twinkle.repo.nii.ac.jp/?action=repository_action_common_download&item_id=22613&item_no=1&attribute_id=22&file_no=1

المؤلفون: Fernández Ramos, Joaquín Alejandro, Torre‑Aguilar, M. J. de la, Quintáns, Beatriz, Pérez Navero, Juan Luis, Beyer, Katrin, López-Laso, Eduardo

المصدر: Parkinsonism & Related Disorders, Volume 94, 2022, Pages 67-78

مصطلحات موضوعية: Dopa-responsive dystonia, Autosomal dominant Segawa disease, GCH1, GTPCH, Autosomal dominant GTPCH deficiency, Dystonia, Parkinsonism, Parkinson's disease, Levodopa, Dyskinesias, Founder mutation, Dopamine

وصف الملف: application/pdf

Relation: https://doi.org/10.1016/j.parkreldis.2021.11.014.; http://hdl.handle.net/10396/27431

الاتاحة: http://hdl.handle.net/10396/27431

المؤلفون: 林毓貞, Yu-Chen Lin

المساهمون: 生物醫學研究所碩士班

مصطلحات موضوعية: 瀨川氏病, 多功能幹細胞, Segawa disease, GTP cyclohydrolase 1, induced pluripotent stem cells, SH-SY5Y cell

Relation: http://ir.cmu.edu.tw/ir/handle/310903500/58480; http://ir.cmu.edu.tw/ir/bitstream/310903500/58480/1/index.html

الاتاحة: http://ir.cmu.edu.tw/ir/handle/310903500/58480
http://ir.cmu.edu.tw/ir/bitstream/310903500/58480/1/index.html

المؤلفون: 藤岡, 弘季, フジオカ, ヒロキ, Fujioka, Hiroki, 新宅, 治夫, シンタク, ハルオ

مصطلحات موضوعية: ドーパ反応性ジストニア, 瀬川病, ネオプテリン, グアノシン三リン酸シクロヒドロラーゼ, doparesponsive dystonia, Segawa disease, Neopterin, guanosine 5’triphosphate cyclohydrolase I

وصف الملف: application/pdf

Relation: 関西福祉科学大学紀要; 20; 91; 98; Journal of Kansai University of Welfare Sciences; AA11195621; https://fuksi-kagk-u.repo.nii.ac.jp/record/1695/files/kagk20161539.pdf

الاتاحة: https://fuksi-kagk-u.repo.nii.ac.jp/record/1695/files/kagk20161539.pdf