Orphanet Journal of Rare Diseases

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Thiamine transporter-2 deficiency: outcome and treatment monitoring
Orphanet Journal of Rare Diseases - Tập 9 - Trang 1-10 - 2014
Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzabal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez-Pombo, Belén Pérez-Dueñas
New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy
Orphanet Journal of Rare Diseases - Tập 16 - Trang 1-6 - 2021
Edward H. Schuchman, Maria D. Ledesma, Calogera M. Simonaro
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Orphanet Journal of Rare Diseases - Tập 10 - Trang 1-10 - 2015
Tahir Atik, Asuman Koparir, Guney Bademci, Joseph Foster, Umut Altunoglu, Gül Yesiltepe Mutlu, Sarah Bowdin, Nursel Elcioglu, Gulsen A. Tayfun, Sevinc Sahin Atik, Mustafa Ozen, Ferda Ozkinay, Yasemin Alanay, Hulya Kayserili, Steffen Thiel, Mustafa Tekin
Clinical characteristics and risk factors of intestinal involvement in Behçet’s syndrome patients: a cross-sectional study from a single center
Orphanet Journal of Rare Diseases - Tập 16 - Trang 1-10 - 2021
Cheng-cheng Hou, Jing-fen Ye, Hai-fen Ma, Jian-long Guan
Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study
Orphanet Journal of Rare Diseases - Tập 18 - Trang 1-9 - 2023
Chae Sung Lee, Mina Tsurumi, Yoshikatsu Eto
The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases - - 2021
Aleksandra Jezela‐Stanek, Anna Bauer, Katarzyna Wertheim–Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut–Cegielska
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Orphanet Journal of Rare Diseases - Tập 16 - Trang 1-1 - 2021
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Orphanet Journal of Rare Diseases - Tập 11 - Trang 1-8 - 2016
Dafne Dain Gandelman Horovitz, Angelina X. Acosta, Roberto Giugliani, Anna Hlavatá, Katarína Hlavatá, Michel C. Tchan, Anneliese Lopes Barth, Laercio Cardoso, Emília Katiane Embiruçu de Araújo Leão, Ana Carolina Esposito, Sandra Obikawa Kyosen, Carolina Fischinger Moura De Souza, Ana Maria Martins
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review
Orphanet Journal of Rare Diseases - Tập 13 - Trang 1-7 - 2018
James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
Emergency guidelines and emergency cards
Orphanet Journal of Rare Diseases - - 2014
Véronique Faucounneau, Ana Rath
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