viernes, 15 de noviembre de 2019

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

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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