Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso by Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells

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Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report by Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells

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Fabry disease, a complex pathology not easy to diagnose by Paolo Colomba, Simone Scalia, Giuseppe Cammarata, Carmela Zizzo, Daniele Francofonte, Vincenzo Savica, Riccardo Alessandro, Francesco Iemolo, Giovanni Duro

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Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease by Takahiro Tsukimura, Sachie Nakano, Tadayasu Togawa, Toshie Tanaka, Seiji Saito, Kazuki Ohno, Futoshi Shibasaki, Hitoshi Sakuraba

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Anderson-Fabry: una malattia rara? by Paolo Colomba, Giuseppe Cammarata, Carmela Zizzo, Simone Scalia, Daniele Francofonte, Riccardo Alessandro, Emanuela Marsana, Lidia Consoli, Serena Guttadauria, Francesco Iemolo, Vincenzo Savica, Giovanni Duro

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Enzyme Replacement Therapy in the Treatment of Fabry Disease by YU Che, WANG Rong

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Evaluating the Metabolic Basis of α-Gal A mRNA Therapy for Fabry Disease by Zhendong Zhang, Qi Liu, Zhiwen Deng, Jun Liu, Shuang Li, Mei Hong, Yucai Peng

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Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations by Oliveira JP, Ferreira S

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Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease by Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto

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A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report by Pisani Antonio, Imbriaco Massimo, Zizzo Carmela, Albeggiani Giuseppe, Colomba Paolo, Alessandro Riccardo, Iemolo Francesco, Duro Giovanni

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Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype by Hassan O.A. Elsaid, Jessica Furriol, Maria Blomqvist, Mette Diswall, Sabine Leh, Naouel Gharbi, Jan Haug Anonsen, Janka Babickova, Camilla Tøndel, Einar Svarstad, Hans-Peter Marti, Maximilian Krause

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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening by Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura

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An Overview of Molecular Mechanisms in Fabry Disease by Federica Amodio, Martina Caiazza, Emanuele Monda, Marta Rubino, Laura Capodicasa, Flavia Chiosi, Vincenzo Simonelli, Francesca Dongiglio, Fabio Fimiani, Nicola Pepe, Cristina Chimenti, Paolo Calabrò, Giuseppe Limongelli

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Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report by Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe

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Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease by Hitoshi Sakuraba, Takahiro Tsukimura, Toshie Tanaka, Tadayasu Togawa, Naoki Takahashi, Daisuke Mikami, Sachiko Wakai, Yasuhiro Akai

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Dysregulated DNA methylation in the pathogenesis of Fabry disease by Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel

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Fabry disease screening in high-risk populations in Japan: a nationwide study by Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura

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α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response by Francesco Consolato, Maurizio De Fusco, Céline Schaeffer, Federico Pieruzzi, Francesco Scolari, Maurizio Gallieni, Chiara Lanzani, Sandro Feriozzi, Luca Rampoldi

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Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy by Takahiro Tsukimura, Yuya Tayama, Tomoko Shiga, Kanako Hirai, Tadayasu Togawa, Hitoshi Sakuraba

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Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis by Nikola Gjorgjievski, Vlatko Karanfilovski, Todor Arsov, Pavlina Dzekova Vidimliski, Galisna Severeova Andreevska, Gjulshen Selim, Petar Dejanov, Vasilena Jordanova, Ivelina Marinova, Emil Paskalev, Igor G. Nikolov

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