Orphanet Journal of Rare Diseases

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

REVIEW

Cutis marmorata telangiectatica congenita: a literature review

Teresa Nu Phuong Trinh Bui, Ayse Corap and Anette Bygum

Orphanet Journal of Rare Diseases 2019, 14:283 | Published on: 4 December 2019

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RESEARCH

Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire

Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain and Olivier Lidove

Orphanet Journal of Rare Diseases 2019, 14:284 | Published on: 4 December 2019

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RESEARCH

Cutaneous neurofibromas: patients’ medical burden, current management and therapeutic expectations: results from an online European patient community survey

Marlene Guiraud, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Jean-Marc Grégoire, Isabelle Rauly-Lestienne, Ignacio Blanco, Pierre Wolkenstein and Anne-Marie Schmitt

Orphanet Journal of Rare Diseases 2019, 14:286 | Published on: 4 December 2019

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RESEARCH

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens…

Orphanet Journal of Rare Diseases 2019, 14:285 | Published on: 4 December 2019

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