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Orphanet Journal of Rare Diseases|September 17, 2014
A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific regionSwee-Sung Soon, Gilberto Lopes, Hwee-Yong Lim, et al.
Orphanet Journal of Rare Diseases|September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseAnnalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 yearsRosella Tomanin, Alessandra Zanetti, Francesca D'Avanzo, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Rare diseases and orphan drugs: Latvian storyKonstantins Logviss, Dainis Krievins, Santa Purvina
Orphanet Journal of Rare Diseases|August 9, 2014
Genotype-phenotype correlation in Pompe disease, a step forwardPaola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia, et al.
Orphanet Journal of Rare Diseases|July 17, 2014
A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington's diseaseTua Vinther-Jensen, Ida U Larsen, Lena E Hjermind, et al.
Orphanet Journal of Rare Diseases|July 16, 2014
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1Yasuhiro Hasegawa, Hisamitsu Hayashi, Sotaro Naoi, et al.
Orphanet Journal of Rare Diseases|December 20, 2013
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrheaRoberto Berni Canani, Gianluca Terrin, Ausilia Elce, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
Orphanet Journal of Rare Diseases|April 4, 2016
Arrhythmogenic cardiomyopathyKalliopi Pilichou, Gaetano Thiene, Barbara Bauce, et al.
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