المؤلفون: Ailton C. Alves Júnior, Maurício V. Daker, Alexei M.C. Machado, Alan S. Luna, Dirceu C. Valladares Neto, Eugenia R. Valadares

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100870- (2022)

مصطلحات موضوعية: Dystonia, Dopa-responsive, Autosomal dominant familial dystonia, Autosomal dominant GPCH1 deficiency, Dystonic disorders, Sleep-wake disorders, Mental disorders, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000301; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3081c556c1524c2f84051066bd5c1b80

المؤلفون: UZUN USLU, Pınar, ERER ÖZBEK, Sevda Çiğdem, TÜTÜNCÜ TOKER, Rabia, OKAN, Mehmet Sait

المصدر: Volume: 45, Issue: 2 169-172 ; 1300-414X ; 2645-9027 ; Uludağ Üniversitesi Tıp Fakültesi Dergisi

مصطلحات موضوعية: Distoni,Dopa yanıtlı distoni,distonik hastalıklar,Segawa Sendromu, Dystonia,Dopa responsive dystonia,Dystonic disorders,Segawa Syndrome

وصف الملف: application/pdf

Relation: https://dergipark.org.tr/tr/download/article-file/780499; https://dergipark.org.tr/tr/pub/uutfd/issue/47715/455161

الاتاحة: https://dergipark.org.tr/tr/pub/uutfd/issue/47715/455161
https://doi.org/10.32708/uutfd.455161

المؤلفون: Sevda Erer Özbek, Pınar Uzun Uslu, Mehmet Okan, Rabia Tütüncü Toker

المصدر: Volume: 45, Issue: 2 169-172
Uludağ Üniversitesi Tıp Fakültesi Dergisi

مصطلحات موضوعية: Dystonia,Dopa responsive dystonia,Dystonic disorders,Segawa Syndrome, Health Care Sciences and Services, Immunology, Sağlık Bilimleri ve Hizmetleri, Distoni,Dopa yanıtlı distoni,distonik hastalıklar,Segawa Sendromu

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e16975d9a06c760d43a0ad0d47ea2
https://dergipark.org.tr/tr/pub/uutfd/issue/47715/455161

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: Jae-Hyeok Lee, Park Kh, Seonhye Kim, Dae-Seong Kim, Chang-Seok Ki, Jae-Wook Cho

المصدر: Journal of Korean Medical Science

مصطلحات موضوعية: Adult, Levodopa, medicine.medical_specialty, Pediatrics, Codon, Initiator, Case Report, Dystonia, Dopa-responsive, medicine.disease_cause, Cerebral palsy, Diagnosis, Differential, Start codon, Spastic diplegia, Medicine, Humans, GCH1 Gene, Diagnostic Errors, GTP Cyclohydrolase, Dystonia, Mutation, business.industry, Cerebral Palsy, General Medicine, Sequence Analysis, DNA, medicine.disease, Surgery, nervous system diseases, Dystonic Disorders, Female, Differential diagnosis, business, Dystonic disorder, medicine.drug, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a752c3fcb3328ee51344a6e505e24e4f
https://pubmed.ncbi.nlm.nih.gov/21935284