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Orphanet Journal of Rare Diseases|March 23, 2021
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case seriesSebile Kılavuz, Sibel Basaran, Deniz Kor, et al.
Orphanet Journal of Rare Diseases|March 24, 2021
Hydroxyurea and blood transfusion therapy for Sickle cell disease in South Asia: inconsistent treatment of a neglected diseaseThamal Darshana, David Rees, Anuja Premawardhena
Orphanet Journal of Rare Diseases|December 25, 2021
Childhood rare diseases and the UN convention on the rights of the childLisa Matthews, Vaughan Chin, Marisa Taliangis, et al.
Orphanet Journal of Rare Diseases|January 28, 2012
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptomsEttore Salsano, Silvia Tabano, Silvia M Sirchia, et al.
Orphanet Journal of Rare Diseases|September 29, 2011
Estimating the budget impact of orphan medicines in Europe: 2010 - 2020Carina Schey, Tsveta Milanova, Adam Hutchings
Orphanet Journal of Rare Diseases|October 27, 2011
Neuroacanthocytosis syndromesHans H Jung, Adrian Danek, Ruth H Walker
Orphanet Journal of Rare Diseases|October 19, 2011
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsGema Garcia-Garcia, Maria J Aparisi, Teresa Jaijo, et al.
Orphanet Journal of Rare Diseases|October 19, 2011
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro testsGiuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, et al.
Orphanet Journal of Rare Diseases|April 21, 2012
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutationsAlberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, et al.
Orphanet Journal of Rare Diseases|April 25, 2012
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedureMinke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, et al.
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