Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

POSITION STATEMENT

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

Claire L. Shovlin, Elisabetta Buscarini, Anette D. Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini and Sophie Dupuis-Girod

Orphanet Journal of Rare Diseases 2018, 13:136 | Published on: 15 August 2018

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RESEARCH

Characterization of vertigo and hearing loss in patients with Fabry disease

Maria Köping, Wafaa Shehata-Dieler, Dieter Schneider, Mario Cebulla, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen and Sebastian P. Schraven

Orphanet Journal of Rare Diseases 2018, 13:137 | Published on: 15 August 2018

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RESEARCH

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

Katherine Y. Liu, Jesse D. Sengillo, Gabriel Velez, Ruben Jauregui, Lynn Y. Sakai, Irene H. Maumenee, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang

Orphanet Journal of Rare Diseases 2018, 13:138 | Published on: 15 August 2018

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REVIEW

Miglustat in Niemann-Pick disease type C patients: a review

Mercè Pineda, Mark Walterfang and Marc C. Patterson

Orphanet Journal of Rare Diseases 2018, 13:140 | Published on: 15 August 2018

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