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 Evaluation of neurofibromatosis type 1 progression using a nationwide registry of patients who submitted claims for medical expense subsidies in Japan between 2008 and 2012 Takashi Yamauchi, Machi Suka, Chikako Nishigori and Hiroyuki Yanagisawa Orphanet Journal of Rare Diseases 2019, 14:166 | Published on: 5 July 2019 Full Text | PDF RESEARCH Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence Wojciech Maselbas, Tomasz Litwin and Anna Czlonkowska Orphanet Journal of Rare Diseases 2019, 14:167 | Published on: 5 July 2019 Full Text | PDF RESEARCH Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences Yi Ji, Siyuan Chen, Suhua Peng, Chunchao Xia and Li Li Orphanet Journal of Rare Diseases 2019, 14:165 | Published on: 5 July 2019 Full Text | PDF LETTER TO THE EDITOR Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations Giulio Calcagni, Maria Cristina Digilio, Bruno Marino and Marco Tartaglia Orphanet Journal of Rare Diseases 2019, 14:163 | Published on: 5 July 2019 Full Text | PDF RESEARCH Genomic imbalances defining novel intellectual disability associated loci Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros… Orphanet Journal of Rare Diseases 2019, 14:164 | Published on: 5 July 2019 Full Text | PDF

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