HuGE Literature Finder
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Records 1-34
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Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring ?-Galactosidase A and Globotriaosylsphingosine.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2018 Sep . Kinoshita Naoto, Hosomi Naohisa, Matsushima Hayato, Nakamori Masahiro, Yagita Yoshiki, Yamawaki Takemori, Torii Tsuyoshi, Kitamura Takeshi, Sueda Yoshimasa, Shimomura Ryo, Araki Mutsuko, Nezu Tomohisa, Aoki Shiro, Ishii Satoshi, Maruyama Hiroki, Matsumoto Masayasu, Maruyama Hirofu |
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Low frequency of Fabry disease in patients with common heart disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct . Schiffmann Raphael, Swift Caren, McNeill Nathan, Benjamin Elfrida R, Castelli Jeffrey P, Barth Jay, Sweetman Lawrence, Wang Xuan, Wu Xiaoya |
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Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.
Journal of human genetics 2017 Mar . Nagamatsu Kiyoshiro, Sekijima Yoshiki, Nakamura Katsuya, Nakamura Kimitoshi, Hattori Kiyoko, Ota Masao, Shimizu Yusaku, Endo Fumio, Ikeda Shu-Ic |
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Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study.
Journal of biomedical research 2016 Oct 31 (1): 17-24. Trachoo Objoon, Jittorntam Paisan, Pibalyart Sarunpong, Kajanachumphol Saowanee, Suvachittanont Norasak, Patputthipong Suthep, Chuengsaman Piyatida, Nongnuch Ark |
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Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
The International journal of neuroscience 2016 Mar 1-14. Song Xiaowei, Xue Sufang, Zhao Jingyan, Wu Ji |
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Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation.
AJNR. American journal of neuroradiology 2016 Feb . Lee H-J, Hung S-C, Hsu T-R, Ko S-C, Chui-Mei T, Huang C-C, Niu D-M, Lin C |
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Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
Clinica chimica acta; international journal of clinical chemistry 2015 Jul 447 96-104. Ferreira Susana, Auray-Blais Christiane, Boutin Michel, Lavoie Pamela, Nunes José Pedro, Martins Elisabete, Garman Scott, Oliveira João Pau |
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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Journal of medical genetics 2015 Apr 52 (4): 262-8. Smid Bouwien E, van der Tol Linda, Biegstraaten Marieke, Linthorst Gabor E, Hollak Carla E M, Poorthuis Ben J H |
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Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.
Clinical and experimental nephrology 2015 Apr 19 (2): 225-30. Watanabe Hirofumi, Goto Shin, Miyashita Akinori, Maruyama Hiroki, Wakasugi Minako, Yokoseki Akio, Kuwano Ryozo, Narita Ichi |
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Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.
BMC neurology 2015 15 (1): 256. Fancellu Laura, Borsini Walter, Romani Ilaria, Pirisi Angelo, Deiana Giovanni Andrea, Sechi Elia, Doneddu Pietro Emiliano, Rassu Anna Laura, Demurtas Rita, Scarabotto Anna, Cassini Pamela, Arbustini Eloisa, Sechi GianPiet |
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Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the ?-galactosidase A (GLA) gene.
BMC genetics 2015 16 (1): 109. Gervas-Arruga Javier, Cebolla Jorge J, Irun Pilar, Perez-Lopez Javier, Plaza Luis, Roche Jose C, Capablo Jose L, Rodriguez-Rey Jose C, Pocovi Miguel, Giraldo Pil |
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Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.
PloS one 2015 10 (8): e0136352. Kilarski Laura L, Rutten-Jacobs Loes C A, Bevan Steve, Baker Rob, Hassan Ahamad, Hughes Derralynn A, Markus Hugh S, |
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The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific.
JIMD reports 2015 23 27-34. Ferreira Susana, Reguenga Carlos, Oliveira João Pau |
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[Prevalence of ischemic stroke in young adults and Fabry disease].
Zhonghua yi xue za zhi 2014 Dec 94 (47): 3717-20. Song Xiaowei, Xue Sufang, Fan Chunqiu, Li Xiaoying, Wu Ji |
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An intronic haplotype in ? galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.
Gene 2014 Oct 549 (2): 275-9. Zeevi David A, Hakam-Spector Elinor, Herskovitz Yair, Beeri Rachel, Elstein Deborah, Altarescu Gheo |
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Fabry disease: a new approach for the screening of females in high-risk groups.
Clinical biochemistry 2014 May 47 (7-8): 657-62. Pasqualim Gabriela, Simon Laura, Sperb-Ludwig Fernanda, Burin Maira Graef, Michelin-Tirelli Kristiane, Giugliani Roberto, Matte Ursu |
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High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Molecular genetics and metabolism 2014 Apr 111 (4): 507-12. Lee Sheng-Hung, Li Cheng-Fang, Lin Hsiang-Yu, Lin Chien-Hsing, Liu Hao-Chuan, Tsai Shih-Feng, Niu Dau-Mi |
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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.
Journal of medical genetics 2014 Jan 51 (1): 1-9. van der Tol L, Smid B E, Poorthuis B J H M, Biegstraaten M, Deprez R H Lekanne, Linthorst G E, Hollak C E |
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p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2014 21 (1): 49-56. Nakamura K, Sekijima Y, Nakamura K, Hattori K, Nagamatsu K, Shimizu Y, Yazaki M, Sakurai A, Endo F, Fukushima Y, Ikeda S |
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Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
Journal of inherited metabolic disease 2013 Sep 36 (5): 881-5. Chien Yin-Hsiu, Bodamer Olaf A, Chiang Shu-Chuan, Mascher Hermann, Hung Christina, Hwu Wuh-Lia |
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Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.
Journal of human genetics 2013 Aug 58 (8): 548-52. Inoue Takahito, Hattori Kiyoko, Ihara Kenji, Ishii Atsushi, Nakamura Kimitoshi, Hirose Shinic |
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Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
Cytokine 2013 Mar 61 (3): 933-9. Zampetti Anna, Gnarra Maria, Borsini Walter, Giurdanella Federica, Antuzzi Daniela, Piras Andrea, Smaldone Costantino, Pieroni Maurizio, Cadeddu Chiara, de Waure Chiara, Feliciani Claud |
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High-throughput screening identified disease-causing mutants and functional variants of ?-galactosidase A gene in Japanese male hemodialysis patients.
Journal of human genetics 2012 Sep 57 (9): 575-9. Doi Kent, Noiri Eisei, Ishizu Tomoko, Negishi Kousuke, Suzuki Yoshifumi, Hamasaki Yoshifumi, Honda Kenjiro, Fujita Toshiro, Tsukimura Takahiro, Togawa Tadayasu, Saito Seiji, Sakuraba Hitos |
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Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients.
Clinical biochemistry 2012 Jul . Barris-Oliveira AC, Müller KB, Turaça LT, Pesquero JB, Martins AM, D'Almeida V |
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Fabry disease: incidence of the common later-onset ?-galactosidase A IVS4+919G?A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
Molecular medicine (Cambridge, Mass.) 2012 18 780-4. Chien Yin-Hsiu, Lee Ni-Chung, Chiang Shu-Chuan, Desnick Robert J, Hwu Wuh-Lia |
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Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
Heart (British Cardiac Society) 2011 Dec 97 (23): 1957-60. Elliott Perry, Baker Robert, Pasquale Ferdinando, Quarta Giovanni, Ebrahim Hatim, Mehta Atul B, Hughes Derralynn A, |
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Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2011 Apr 18 (4): 631-6. Tanislav C, Kaps M, Rolfs A, Böttcher T, Lackner K, Paschke E, Mascher H, Laue M, Blaes |
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Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
Stroke; a journal of cerebral circulation 2010 Mar 41 (3): 431-6. Baptista Miguel Viana, Ferreira Susana, Pinho-E-Melo Teresa, Carvalho Marta, Cruz Vítor T, Carmona Cátia, Silva Fernando A, Tuna Assunção, Rodrigues Miguel, Ferreira Carla, Pinto Ana A N, Leitão André, Gabriel João Paulo, Calado Sofia, Oliveira João Paulo, Ferro José M, |
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High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Circulation. Cardiovascular genetics 2009 Oct 2 (5): 450-6. Lin Hsiang-Yu, Chong Kah-Wai, Hsu Ju-Hui, Yu Hsiao-Chi, Shih Chun-Che, Huang Cheng-Hung, Lin Shing-Jong, Chen Chen-Huan, Chiang Chuan-Chi, Ho Huey-Jane, Lee Pi-Chang, Kao Chuan-Hong, Cheng Kang-Hsiang, Hsueh Chuen, Niu Dau-Mi |
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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Human mutation 2009 Oct 30 (10): 1397-405. Hwu Wuh-Liang, Chien Yin-Hsiu, Lee Ni-Chung, Chiang Shu-Chuan, Dobrovolny Robert, Huang Ai-Chu, Yeh Hui-Ying, Chao May-Chin, Lin Shio-Jean, Kitagawa Teruo, Desnick Robert J, Hsu Li-W |
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Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Journal of inherited metabolic disease 2008 Dec 31 Suppl 2 S349-56. Rohard I, Schaefer E, Kampmann C, Beck M, Gal |
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Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human ?-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.
Journal of inherited metabolic disease 2008 Dec 31 Suppl 2 S247-53. Oliveira J P, Ferreira S, Barceló J, Gaspar P, Carvalho F, Sá Miranda M C, Månsson J |
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Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008 Jan 23 (1): 294-300. Terryn Wim, Poppe Bruce, Wuyts Birgitte, Claes Kathleen, Maes Bart, Verbeelen Dierik, Vanholder Raymond, De Boeck Koen, Lameire Norbert, De Paepe Anne, De Schoenmakere Ge |
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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Human mutation 2005 Apr 25 (4): 412. Schäfer Ellen, Baron Karin, Widmer Urs, Deegan Patrick, Neumann Hartmut P H, Sunder-Plassmann Gere, Johansson Jan-Ove, Whybra Catharina, Ries Markus, Pastores Gregory M, Mehta Atul, Beck Michael, Gal Andre |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
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