Orphanet Journal of Rare Diseases
Collection
Collection
- ISSN: 1750-1172
Covers all aspects of rare diseases and orphan drugs.
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Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy Article
Orphanet Journal of Rare Diseases, 6(1), 34-41.D. Güngör (Deniz), J.M. de Vries (Juna), W.C.J. Hop (Wim), A.J.J. Reuser (Arnold), P.A. van Doorn (Pieter), A.T. van der Ploeg (Ans) and M.L.C. Hagemans (Marloes)
June 2011
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease Review
M. Scarpa (Maurizio), Z. Almássy (Zsuzsanna), M. Beck (Michael), O.A. Bodamer (Olaf), I.A. Bruce (Iain), L. de Meirleir (Linda), N. Guffon (Nathalie), E. Guillen-Navarro (Encarna), P. Hensman (Pauline), S. Jones (Simon), et al. W. Kamin (Wolfgang), C. Kampmann (Christoph), C. Lampe (Christina), C.A. Lavery (Christine), E. Leão Teles (Elisa), B. Link (Bianca), A.M. Lund (Allan), G. Malm (Gunilla), S. Pitz (Susanne), M. Rothera (Michael), C. Stewart (Catherine), A. Tylki-Szymaska (Anna), A.T. van der Ploeg (Ans), R. Walker (Robert), J. Zeman (Jiri) and J.E. Wraith (James)
November 2011
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Congenital dyserythropoietic anemia type II: Molecular analysis and expression of the SEC23B Gene Article
Orphanet Journal of Rare Diseases, 6(1)F. Punzo (Francesca), A.M. Bertoli Avella (Aida), S. Scianguetta, F. Della Ragione (Fulvio), M. Casale (Maddalena), L. Ronzoni (Luisa), M.D. Cappellini (Maria), G. Forni (Gianluca), B.A. Oostra (Ben) and S. Perrotta (Silverio)
December 2011
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Public support for neonatal screening for Pompe disease, a broad-phenotype condition Article
Orphanet Journal of Rare Diseases, 7(1)S.S. Weinreich (Stephanie ), T. Rigter (Tessel), C.G. El (Carla), W.J. Dondorp (Wybo Jan), P.J. Kostense (Piet), A.T. van der Ploeg (Ans), A.J.J. Reuser (Arnold), M.C. Cornel (Martina) and M.L.C. Hagemans (Marloes)
March 2012
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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: Data from a cohort study Article
Orphanet Journal of Rare Diseases, 7(1)C.M.L. Touw (Catharina M L), G.P. Smit, M. de Vries (Maaike), J.B.C. de Klerk (Johannes), A.M. Bosch (Annet), G. Visser (G.), M.F. Mulder (Margot), M.E. Rubio-Gozalbo (Estela), L.H. Elvers, K.E. Niezen-Koning, et al. R.J.A. Wanders (Ronald), H.R. Waterham, D.J. Reijngoud and T.G.J. Derks (Terry G J)
May 2012
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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations Article
Orphanet Journal of Rare Diseases, 7(1)A. Herzog (Andre), R. Hartung (Ralf), A.J.J. Reuser (Arnold), T. Hermanns (Thomas), H. Runz (Heiko), N. Karabul, S. Gökce (Seyfullah), J. Pohlenz (Joachim), C. Kampmann (Christoph), C. Lampe (Christina), et al. M. Beck (Markus) and E. Mengel
June 2012
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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study Article
Orphanet Journal of Rare Diseases, 7(1)J.M. de Vries (Juna), N.A.M.E. van der Beek (Nadine), W.C.J. Hop (Wim), F.P.J. Karstens (François), J.H.J. Wokke (John), M. de Visser (Marianne), B.G.M. van Engelen (Baziel), J.B.M. Kuks (Jan), A.J. Kooj (Anneke), N.C. Notermans (Nicolette), et al. C.G. Faber (Carin), J.J. Verschuuren (Jan), M.E. Kruijshaar (Michelle), A.J.J. Reuser (Arnold), P.A. van Doorn (Pieter) and A.T. van der Ploeg (Ans)
September 2012
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Clinical features and predictors for disease natural progression in adults with Pompe disease: A nationwide prospective observational study Article
Orphanet Journal of Rare Diseases, 7(1)N.A.M.E. van der Beek (Nadine), J.M. de Vries (Juna), M.L.C. Hagemans (Marloes), W.C.J. Hop (Wim), M.A. Kroos (Marian), J.H.J. Wokke (John), M. de Visser (Marianne), B.G.M. van Engelen (Baziel), J.B.M. Kuks (Jan), A.J. Kooj (Anneke), et al. N.C. Notermans (Nicolette), K.G. Faber (Karin), J.J. Verschuuren (Jan), A.J.J. Reuser (Arnold), A.T. van der Ploeg (Ans) and P.A. van Doorn (Pieter)
November 2012