Orphanet Journal of Rare Diseases

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

REVIEW

Longitudinal natural history of type I spinal muscular atrophy: a critical review

Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb and Richard S. Finkel

Orphanet Journal of Rare Diseases 2020, 15:84 | Published on: 5 April 2020

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RESEARCH

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures

P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt and K. G. Claeys

Orphanet Journal of Rare Diseases 2020, 15:83 | Published on: 5 April 2020

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RESEARCH

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier…

Orphanet Journal of Rare Diseases 2020, 15:85 | Published on: 5 April 2020

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