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Number of items: 3.

Kalkum, Gisela; Pitz, Susanne; Karabul, Nesrin; Beck, Michael; Pintos-Morell, Guillem; Parini, Rossella; Rohrbach, Marianne; Bizjajeva, Svetlana; Ramaswami, Uma (2016). Paediatric Fabry disease: prognostic significance of ocular changes for disease severity. BMC Ophthalmology, 16(202):online.

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A; Biagosch, Caroline A; Shamseldin, Hanan E; Haack, Tobias B; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S; Wieland, Thomas; Strom, Tim M; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A; Al-Jishi, Emtethal; Raab, Christopher P; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S; Falk, Marni J; Zeviani, Massimo (2013). Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics, 93(3):482-495.

Ramaswami, Uma; Stull, Donald E; Parini, Rossella; Pintos-Morell, Guillem; Whybra, Catharina; Kalkum, Gisela; Rohrbach, Marianne; Raluy-Callado, Mireia; Beck, Michael; Chen, Wen-Hung; Wiklund, Ingela (2012). Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ). Health and Quality of Life Outcomes, 10:116.

This list was generated on Wed Mar 20 06:11:19 2019 CET.