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 Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky and Heiko Reutter Orphanet Journal of Rare Diseases 2017, 12:180 | Published on: 13 December 2017 Full Text | PDF RESEARCH Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in adult patients with Pompe disease Tim A. Kanters, Ans T. van der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken and Leona Hakkaart-van Roijen Orphanet Journal of Rare Diseases 2017, 12:179 | Published on: 13 December 2017 Full Text | PDF

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