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 Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature Huakun Shangguan, Chang Su, Qian Ouyang, Bingyan Cao, Jian Wang, Chunxiu Gong and Ruimin Chen Orphanet Journal of Rare Diseases 2019, 14:255 | Published on: 14 November 2019 Full Text | PDF RESEARCH Systemic bevacizumab for high-output cardiac failure in hereditary hemorrhagic telangiectasia: an international survey of HHT centers Hanny Al-Samkari, Hasan A. Albitar, Scott E. Olitsky, Marianne S. Clancy and Vivek N. Iyer Orphanet Journal of Rare Diseases 2019, 14:256 | Published on: 14 November 2019 Full Text | PDF REVIEW Obesity in achondroplasia patients: from evidence to medical monitoring Celine Saint-Laurent, Laura Garde-Etayo and Elvire Gouze Orphanet Journal of Rare Diseases 2019, 14:253 | Published on: 14 November 2019 Full Text | PDF RESEARCH Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII – a European caregiver survey Alexandra Morrison, Esmee Oussoren, Tabea Friedel, Jordi Cruz and Nalan Yilmaz Orphanet Journal of Rare Diseases 2019, 14:254 | Published on: 14 November 2019 Full Text | PDF RESEARCH A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, Karl-Eugen Mengel, Julia B. Hennermann, Irene Schmidtmann and Susanne Pitz Orphanet Journal of Rare Diseases 2019, 14:257 | Published on: 14 November 2019 Full Text | PDF

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