CIENCIASMEDICASNEWS: Orphanet Journal of Rare Diseases

viernes, 13 de octubre de 2017

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

Articles

Recent articles RSS

REVIEW
The complete European guidelines on phenylketonuria: diagnosis and treatment
A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn…
Published on: 12 October 2017
RESEARCH
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego and Michael Beck
Published on: 3 October 2017
LETTER TO THE EDITOR
Transient yellow discoloration of the nails for differential diagnosis with yellow nail syndrome
Anca Chiriac, Adrian Naznean, Cristian Podoleanu and Simona Stolnicu
Published on: 2 October 2017
RESEARCH
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood
Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz…
Published on: 2 October 2017
RESEARCH
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia
Meher Lad, Michael H. Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A. Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker and Paola Giunti
Published on: 26 September 2017