martes, 14 de enero de 2020

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

New Articles For BioMed Central:

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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