Latest Article Alert from Orphanet Journal of Rare Diseases

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

Letter to the Editor  

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Picker-Minh S, Mignot C, Doummar D, Hashem M, Faqeih E, Josset P, Dubern B, Alkuraya F, Kraemer N, Kaindl A

Orphanet Journal of Rare Diseases 2016, 11 :52 (29 April 2016)

Abstract | Full Text | PDF

Research  

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series

Horovitz D, Acosta A, Giugliani R, Hlavatá A, Hlavatá K, Tchan M, Lopes Barth A, Cardoso L, Embiruçu de Araújo Leão E, Esposito A, Kyosen S, De Souza C, Martins A

Orphanet Journal of Rare Diseases 2016, 11 :51 (29 April 2016)

Abstract | Full Text | PDF

Review  

Rethinking fatigue in Gaucher disease

Zion Y, Pappadopulos E, Wajnrajch M, Rosenbaum H

Orphanet Journal of Rare Diseases 2016, 11 :53 (29 April 2016)

Abstract | Full Text | PDF