Latest Article Alert from Orphanet Journal of Rare Diseases

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

Research  

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Marcé-Grau A, Dalton J, López-Pisón J, García-Jiménez M, Monge-Galindo L, Cuenca-León E, Giraldo J, Macaya A

Orphanet Journal of Rare Diseases 2016, 11 :38 (12 April 2016)

Abstract | Full Text | PDF

Research  

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

de Winter C, Baas M, Bijlsma E, van Heukelingen J, Routledge S, Hennekam R

Orphanet Journal of Rare Diseases 2016, 11 :37 (12 April 2016)

Abstract | Full Text | PDF

Research  

Italian program for independent research on drugs: 10 year follow-up of funded studies in the area of rare diseases

Traversa G, Masiero L, Sagliocca L, Trotta F

Orphanet Journal of Rare Diseases 2016, 11 :36 (12 April 2016)

Abstract | Full Text | PDF

Research  

POEMS syndrome and calciphylaxis: an unrecognized cause of abnormal small vessel calcification

Araki N, Misawa S, Shibuya K, Ota S, Oide T, Kawano A, Beppu M, Nakatani Y, Kuwabara S

Orphanet Journal of Rare Diseases 2016, 11 :35 (12 April 2016)

Abstract | Full Text | PDF