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| Prevalence of Fabry Disease among Patients with Parkinson's Disease. Parkinson's disease 2022 2022 1014950. Lackova Alexandra, Beetz Christian, Oppermann Sebastian, Bauer Peter, Pavelekova Petra, Lorincova Tatiana, Ostrozovicova Miriam, Kulcsarova Kristina, Cobejova Jana, Cobej Martin, Levicka Petra, Liesenerova Simona, Sendekova Daniela, Sukovska Viktoria, Gdovinova Zuzana, Han Vladimir, Rizig Mie, Houlden Henry, Skorvanek Mat |
| High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME). Journal of clinical medicine 2021 May 10 (10): . Fan Yiting, Chan Tsz-Ngai, Chow Josie T Y, Kam Kevin K H, Chi Wai-Kin, Chan Joseph Y S, Fung Erik, Tong Mabel M P, Wong Jeffery K T, Choi Paul C L, Chan David K H, Sheng Bun, Lee Alex Pui-W |
| Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. JIMD reports 2021 May 59 (1): 60-68. Limgala Renuka Pudi, Furtak Vyacheslav, Ivanova Margarita M, Changsila Erk, Wilks Floyd, Fidelia-Lambert Marie N, Goker-Alpan Ozlem, Gondré-Lewis Marjorie |
| Mutation analysis of the GLA gene in Chinese patients with intracerebral hemorrhage. Neurobiology of aging 2021 Feb . Tang Lu, Yang Qiong, Liu Xiaolu, Tian Danyang, Wu Chenying, Han Qi, Yan Xin, Ding Shengchao, Fan Dongshe |
| Prevalence of GLA gene mutations and polymorphisms in patients with multiple sclerosis: A cross-sectional study. Journal of the neurological sciences 2020 Mar 412 116782. Russo Camilla, Cocozza Sirio, Riccio Eleonora, Pontillo Giuseppe, Petruzzelli Luigi Annicchiarico, Lanzillo Roberta, Spinelli Letizia, Colomba Paolo, Duro Giovanni, Imbriaco Massimo, Russo Cinzia Valeria, De Riso Giulia, Di Risi Teodolinda, Tedeschi Enrico, Cuocolo Alberto, Brunetti Arturo, Morra Vincenzo Brescia, Cocozza Sergio, Pisani Anton |
| Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019. Journal of nephrology 2019 Oct . Capuano Ivana, Garofalo Carlo, Buonanno Pasquale, Pinelli Michele, Di Risi Teodolinda, Feriozzi Sandro, Riccio Eleonora, Pisani Anton |
| Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring a-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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the a-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 |
| 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, |
| 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 |
| [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 |
| An intronic haplotype in a 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| High-throughput screening identified disease-causing mutants and functional variants of a-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 |
| 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 |
| Fabry disease: incidence of the common later-onset a-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 |
| 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, |
| Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients. Indian journal of nephrology 0 29 (6): 398-401. Jaurretche Sebastián P A, Antongiovanni Norberto, Perretta Fernan |
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- Page last updated:Jan 27, 2023
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