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

For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Research

Compassionate use of orphan drugs

Hyry H, Manuel J, Cox T, Roos J

Orphanet Journal of Rare Diseases 2015, 10 :100 (21 August 2015)

Abstract | Full Text | PDF

Research

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Chien Y, Abdenur J, Baronio F, Bannick A, Corrales F, Couce M, Donner M, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu W, James P, Kim S, Korman S, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson W, Wortmann S, Yamamoto S, Pao M, Blom H

Orphanet Journal of Rare Diseases 2015, 10 :99 (20 August 2015)

Abstract | Full Text | PDF

Research

A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis

Chin C, Kohn S, Keens T, Margetis M, Kato R

Orphanet Journal of Rare Diseases 2015, 10 :98 (20 August 2015)

Abstract | Full Text | PDF