| 1 |
Pharmaceutical compounding of orphan active ingredients in Belgium: how community and hospital pharmacists can address the needs of patients with rare diseases.
Vanhoorne, V, Peeters, E, Van Tongelen, I, Boussery, K, Wynendaele, E, De Spiegeleer, B, Remon, J P, Vervaet, C,
Vol. 14 pp. 186
|
2019 |
436
|
| 10 |
Incontinentia pigmenti burden scale: designing a family burden questionnaire.
Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine, , ,
Vol. 14 pp. 271
|
2019 |
430
|
| 14 |
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua, Jorge A, Guecaimburu Ehuletche, Maria Del Rosario, Perna, Abayuba, Dubrovsky, Alberto, Franca, Marcondes C, Vargas, Steven, Hegde, Madhuri, Claeys, Kristl G, Straub, Volker, Daba, Nadia, Faria, Roberta, Periquet, Magali, Sparks, Susan, Thibault, Nathan, Araujo, Roberto,
Vol. 15 pp. 11
|
2020 |
429
|
| 2 |
Compounded medication for patients with rare diseases
Dooms, Marc, Carvalho, Maria,
Vol. 13 pp. 1-8
|
2018 |
416
|
| 11 |
"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Ambrosini, Anna, Quinlivan, Ros, Sansone, Valeria A, Meijer, Ingeborg, Schrijvers, Guus, Tibben, Aad, Padberg, George, de Wit, Maarten, Sterrenburg, Ellen, Mejat, Alexandre, Breukel, Alexandra, Rataj, Michal, Lochmüller, Hanns, Willmann, Raffaella, , ,
Vol. 14 pp. 126
|
2019 |
394
|
| 7 |
A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom.
Eljamel, Sana, Ghosh, Wrik, De Stone, Sachin, Griffiths, Annabel, Barrett, Timothy, Thompson, Richard,
Vol. 14 pp. 185
|
2019 |
378
|
| 5 |
Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases
Caron, Molster, Leanne, Youngs, Emma, Hammond, Hugh, Dawkins,
Vol. 7 pp. 50-
|
2012 |
360
|
| 6 |
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Wilder, Philippe Van, Bogaerts, Kris, Vries, Esther de, Taskforce, in collaboration with the Plasma Protein Therapeutics Association (PPTA),
Vol. 13 pp. 1-17
|
2018 |
334
|
| 8 |
Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis.
Connolly, Mark P, Panda, Saswat, Patris, Julien, Hazenberg, Bouke P C,
Vol. 14 pp. 220
|
2019 |
329
|
| 9 |
Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research
Solebo, A.
Vol. 14 pp. 0-0
|
2019 |
320
|
| 13 |
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.
Noor, Farjana Akther, Sultana, Nusrat, Bhuyan, Golam Sarower, Islam, Md Tarikul, Hossain, Mohabbat, Sarker, Suprovath Kumar, Islam, Khaleda, Khan, Waqar Ahmed, Rahman, Mujahida, Qadri, Syeda Kashfi, Shekhar, Hossain Uddin, Qadri, Firdausi, Qadri, Syed Saleheen, Mannoor, Kaiissar,
Vol. 15 pp. 15
|
2020 |
226
|
| 12 |
European lipodystrophy registry: background and structure.
von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, D'Apice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul C M, Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze, Nagel, Gabriele, Novelli, Giuseppe, Santini, Ferruccio, Santos Silva, Ermelinda, Savage, David B, Sbraccia, Paolo, Schaaf, Jannik, Sorkina, Ekaterina, Tanteles, George, Vantyghem, Marie-Christine, Vatier, Camille, Vigouroux, Corinne, Vorona, Elena, Araújo-Vilar, David, Wabitsch, Martin,
Vol. 15 pp. 17
|
2020 |
205
|
| 4 |
Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia
O, Crawford Thomas, A, Lefton-Greif Maureen, Sharon, McGrath-Morrow, A, Carson Kathryn, M, Lederman Howard,
Vol. 6 pp. 23-
|
2011 |
202
|
| 23 |
Real-world evidence on Kovaltry (81-8973) in children with moderate or severe hemophilia A in Europe: a nested cohort analysis
O’Hara, J.
Vol. 16 pp. 0-0
|
2021 |
191
|
| 3 |
Congenital neutropenia: diagnosis, molecular bases and patient management
Christine, Chantelot, Blandine, Beaupain, Nizar, Mahlaoui, Odile, Fenneteau, Jean, Donadieu,
Vol. 6 pp. 26-
|
2011 |
162
|
| 15 |
pendampingan penyusunan dokumen rencana pembangunan jangka menengah desa
, Sri Retno Indrastanti, Andy Dwi Bayu Bawono, Nursiam Nursiam, Shinta Permata Sari, Wafiatun Mukharomah
Vol. 19 pp. 120-127
|
2017 |
133
|
| 17 |
meningkatkan pemahaman masyarakat untuk hidup sehat pada masa menopause
, Dwi Rosella Komala Sari
Vol. 13 pp. 48-54
|
2017 |
120
|
| 20 |
ibm tuna netra sudarno dan supardiono di karanganyar
, Isnaini Herawati, Wahyuni Wahyuni
Vol. 18 pp. 85-91
|
2015 |
106
|
| 21 |
pemanfaatan pemrograman visual sebagai alternatif pembuatan media belajar berbasis game dan animasi
, Dedi Gunawan, Fatah Yasin Al Irsyadi
Vol. 19 pp. 53-63
|
2016 |
70
|
| 22 |
pemberdayaan kelompok pendukung asi eksklusif dalam gerakan gemar asi eksklusif
, Rina Sri Widayati, Istiqomah Risa Wahyuningsih
Vol. 19 pp. 90-96
|
2016 |
51
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