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Orphanet Journal of Rare Diseases|November 13, 2013
Bronchoalveolar lavage fluid cytokine profiles in neuroendocrine cell hyperplasia of infancy and follicular bronchiolitisJonathan Popler, Brandie D Wagner, Heidi Luckey Tarro, et al.
Orphanet Journal of Rare Diseases|October 30, 2013
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progressionCyril Mignot, Emmanuelle Apartis, Alexandra Durr, et al.
Orphanet Journal of Rare Diseases|October 19, 2013
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismLaura Dotta, Silvia Parolini, Alberto Prandini, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutationsAnna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Reconstructive management of the rare bilateral oral submucos fibrosis using nasolabial flap in comparison with free radial forearm flap--a randomised prospective trialMuhammad Faisal, Madiha Rana, Anjum Shaheen, et al.
Orphanet Journal of Rare Diseases|October 1, 2013
The molecular mechanisms on glomangiopericytoma invasionQiang Sun, Chunye Zhang, Wantao Chen, et al.
Orphanet Journal of Rare Diseases|October 2, 2013
The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosisBruce C Trapnell, Maurizio Luisetti
Orphanet Journal of Rare Diseases|August 21, 2013
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorderPiya Lahiry, Lemuel Racacho, Jian Wang, et al.
Orphanet Journal of Rare Diseases|October 11, 2013
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcomeSandra Jester, Julia Larsson, Erik A Eklund, et al.
Orphanet Journal of Rare Diseases|October 11, 2013
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)Kathrin N Karle, Rebecca Schüle, Stephan Klebe, et al.
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