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Poikilothermia in a 38-year-old Fabry patient

Biegstraaten, Marieke ; Van Schaik, Ivo N ; Hollak, Carla E. M ; Wieling, Wouter ; Linthorst, Gabor E

Clinical Autonomic Research, 2011, Vol.21(3), p.177-179 [Peer Reviewed Journal]

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Presymptomatic diagnosis of Fabry’s disease: a case report

Hasselbalch, Rasmus Bo ; Madsen, Per Lav ; Bundgaard, Henning ; Theilade, Juliane

Journal of Medical Case Reports, 2016, Vol.10 [Peer Reviewed Journal]

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De novo mutation in a male patient with Fabry disease: a case report

Iemolo, Francesco ; Pizzo, Federica ; Albeggiani, Giuseppe ; Zizzo, Carmela ; Colomba, Paolo ; Scalia, Simone ; Bartolotta, Caterina ; Duro, Giovanni

BMC Research Notes, 2014, Vol.7, p.11-11 [Peer Reviewed Journal]

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Central nervous system vasculopathy caused by Fabry disease: a case report

Kong, De-Zheng ; Lian, Ya-Hui ; Wang, Lin-Jing ; Wang, Chun-Mei ; Meng, Yang-Yang ; Zhou, Hong-Wei

BMC Neurology, 2019, Vol.19 [Peer Reviewed Journal]

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Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease

Limongelli, Giuseppe ; Masarone, Daniele ; Verrengia, Marina ; Gravino, Rita ; Salerno, Gemma ; Castelletti, Silvia ; Rubino, Marta ; Marrazzo, Tommaso ; Pisani, Antonio ; Cecchi, Franco ; Elliott, Perry Mark ; Pacileo, Giuseppe

Journal of Cardiovascular Echography, 2018, Vol.28(2), p.120-123 [Peer Reviewed Journal]

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The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene

Macklin, Sarah ; Laney, Dawn ; Lisi, Emily ; Atherton, Andrea ; Smith, Elizabeth

Journal of Genetic Counseling, Feb 2018, Vol.27(1), pp.217-224 [Peer Reviewed Journal]

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Fabry disease: Case report with emphasis on enzyme replacement therapy and possible future therapeutic options

Mohrenschlager, Matthias ; Pontz, Bertram ; Lanzl, Ines ; Podskarbi, Theodor ; Henkel, Verena ; Ring, Johannes Mohrenschlager, Matthias (correspondence author)

J D D G, Jul 2007, Vol.5(7), pp.594-597 [Peer Reviewed Journal]

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Relief of Left Ventricular Outflow Obstruction by Cibenzoline in a Patient With Fabry's Disease. A Case Report

Morimoto, Shin-Ichiro ; Sugiura, Atsushi ; Iwase, Masatsugu ; Kubo, Natsuko ; Hiramitsu, Shinya ; Uemura, Akihisa ; Ohtsuki, Masatsugu ; Kato, Shigeru ; Kato, Yasuchika ; Hishida, Hitoshi Hishida, Hitoshi (correspondence author)

Angiology, Apr 2006, Vol.57(2), pp.241-245 [Peer Reviewed Journal]

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Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

Oder, Daniel ; Vergho, Dorothee ; Ertl, Georg ; Wanner, Christoph ; Nordbeck, Peter

BMC Medical Genetics, 2016, Vol.17 [Peer Reviewed Journal]

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Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body

Oikawa, Masayoshi ; Sakamoto, Nobuo ; Kobayashi, Atsushi ; Suzuki, Satoshi ; Yoshihisa, Akiomi ; Yamaki, Takayoshi ; Nakazato, Kazuhiko ; Suzuki, Hitoshi ; Saitoh, Shu-Ichi ; Kiko, Yuichirou ; Nakano, Hajime ; Hayashi, Takeharu ; Kimura, Akinori ; Takeishi, Yasuchika

BMC Cardiovascular Disorders, 2016, Vol.16 [Peer Reviewed Journal]

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