Paper Review Records
All Paper Review Records
16 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
127
days
Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities
Authors
Grazia Crescimanno; Oreste Marrone; Marta Lazzeri; Paolo Innocente Banfi; Agata Lax; Elena Compalati; Rosario Di Marco; Sabrina Planiscig; Paola Confalonieri; Fabrizio Seidita; Filippo Brighina; Marco ConfalonieriShow moreShow less
Affiliations
1. Institute for Biomedical Research and Innovation (IRIB), National Research Council, Palermo, Italy; 2. Departmental Unit of Neurophysiopathology, Regional Centre for Diagnosis and Treatment of Rare Neurological Diseases, AOUP Policlinico, University of Palermo, Palermo, Italy; 3. IRCCS Fondazione Don Gnocchi, Milano, Italy; 4. Functional Recovery and Rehabilitation, Ospedali Riuniti Villa Sofia- Cervello, Palermo, Italy; 5. Department of Pulmonology, University Hospital of Cattinara, Trieste, Italy; 6. AIGlico (Italian Glycogenosis Association), Assago, ItalyShow moreShow less
140
days
Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet–Biedl Syndrome: a pilot study
Authors
Tugce Kandemir; Melek Yildiz; Ummahan Tercan; Ozge Bayrak Demirel; Hasan Yanik; Volkan Karaman; Ayca Dilruba Aslanger; Aslı Derya Kardelen; Sukran Poyrazoglu; Feyza Darendeliler; Guven Toksoy; Firdevs BasShow moreShow less
Affiliations
1. Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye; 2. Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye; 3. Department of Genetics, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, TürkiyeShow moreShow less
391
days
Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council
Authors
Agnès Farrugia; Ahmed Bahey; Ahmad Tarawah; Arwa Al Yamani; Carla Abou Selwan; Dania Mohty; Denis Wolfs; Dorica Dan; Hafiz Mosa Ali Malhan; Johan De Graaf; Stefan Živković; Yasser Wali; Youmna Ouraybi; Zakareya Al Kadhem; Nafisa Tawfiq; Lee Davelaar; Noha Mohamed Mahmoud AbdelbakyShow moreShow less
Affiliations
1. Association Française Contre L’Amylose, Marseille, France; 2. Qatar Friends Hemophilia Group (QFHG), Doha, Qatar; 3. Pediatric Hematology-Oncology, King Salman Medical City, Madinah, Saudi Arabia; 4. Al Madinah Hereditary Blood Disorders Charity Society, Madinah, Saudi Arabia; 5. MENA Hematology League, Dubai, United Arab Emirates; 6. Hematology/Oncology/BMT Deputy Chairman of Saudi and Thalassemia and Sickle Cell Anemia Society, Riyadh, Saudi Arabia; 7. Saudi Association of Pediatric Hematology/Oncology Society (SAPHOS), Riyadh, Saudi Arabia; 8. Science PRO, Jal-el-dib, Lebanon; 9. King Faisal Specialist Hospital, Riyadh, Saudi Arabia; 10. Amyloidosis Association, Brussels, Belgium; 11. Romanian National Alliance for Rare Disease, Bucharest, Romania; 12. Adult Hematologist, Riyadh, Saudi Arabia; 13. Dutch Pituitary Foundation, Nijkerk, The Netherlands; 14. Endo-ERN European Reference Network on Rare Endocrine Conditions, Leiden, The Netherlands; 15. Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands; 16. National Organization of Rare Diseases, Belgrade, Serbia; 17. Pediatric Hematology, College of Medicine and Health Sciences, Sultan Qaboos University, Board Member Omani Society of Hematology, Muscat, Oman; 18. Ana Fareed Health Consultancy for Patient Advocacy, Dubai, United Arab Emirates; 19. Bahrain Society for Sickle Cell Disease Patients Care, Manama, Bahrain; 20. UAE Rare Disease Society, Dubai, United Arab Emirates; 21. Emerging Markets, Global Policy & Public Affairs, Rare Diseases, Pfizer, Sydney, Australia; 22. Regional Patient Advocacy – Middle East, Pfizer, Cairo, EgyptShow moreShow less
72
days
Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement
Authors
Benedikt SchoserShow moreShow less
Affiliations
1. Department of Neurology, Friedrich-Baur-Institute, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München, München, GermanyShow moreShow less
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