Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study Sadia Jahan, Subashini Sarathchandran, Shamina Akhter, Jack Goldblatt, Samantha Stark, Douglas Crawford, Andrew Mallett and Mark Thomas Orphanet Journal of Rare Diseases 2020, 15:10 | Published on: 13 January 2020 Full Text | PDF RESEARCH The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault and Roberto Araujo Orphanet Journal of Rare Diseases 2020, 15:11 | Published on: 13 January 2020 Full Text | PDF

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