New Articles From Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases REVIEW Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu and Yimin Cui Orphanet Journal of Rare Diseases 2019, 14:39 | Published on: 13 February 2019 Full Text | PDF REVIEW Systematic literature review and meta-analysis on the epidemiology of propionic acidemia Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei Orphanet Journal of Rare Diseases 2019, 14:40 | Published on: 13 February 2019 Full Text | PDF RESEARCH Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar and Miriam Schmidts Orphanet Journal of Rare Diseases 2019, 14:41 | Published on: 13 February 2019 Full Text | PDF RESEARCH Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert and Marie Christine Vantyghem Orphanet Journal of Rare Diseases 2019, 14:42 | Published on: 13 February 2019 Full Text | PDF

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