Paper Review Records
All Paper Review Records
11 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
278
days
Unlocking MENA’s potential in rare-disease precision medicine
AuthorsBrahim Tabarki; Khalid Hundallah; Majid Alfadhel
Affiliations1. Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 2. Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 3. Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children’s Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 4. King Salman Center for Disability Research, Riyadh, Saudi Arabia
139
days
Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay
AuthorsNataliia Samonenko; Nataliia Olkhovych; Olena Okhotnikova; Nataliia Gorovenko
Affiliations1. Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine; 2. National Children’s Specialized Hospital “Okhmatdyt”, Kyiv, Ukraine; 3. National Scientific Center “Institute of Cardiology, Clinical and Regenerative Medicine Named After M.D. Strazheska”, Kyiv, Ukraine
364
days
Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience
AuthorsSheng Yi; Qi Yang; Linlin Wang; Xunzhao Zhou; Shujie Zhang; Jiale Qian; Shang Yi; Jing Huang; Junjie Chen; Qiang Zhang; Fei Chen; Jiao Li; Shengkai Wei; Xiaofei Zhang; Qinle Zhang; Pingshan Pan; Zailong Qin; Jingsi Luo
Affiliations1. Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; 2. Guangxi Clinical Research Center for Birth Defects, Guangxi Clinical Research Center for Pediatric Diseases, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; 3. Department of Obstetrics, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; 4. Pediatrics Department, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; 5. Department of Radiology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China
234
days
Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review
AuthorsMonika Dolik-Michno; Magnus Starbrink; Helena Wandin; Annika Jernberg Grönlund; Martha Gustavsson; Linn Johnels
Affiliations1. Swedish National Center for Rett Syndrome and Related Disorders, Frösön, Sweden; 2. Oslo Metropolitan University, Oslo, Norway; 3. Department of Public Health and Caring Sciences, University of Uppsala, Uppsala, Sweden; 4. Department of Community Medicine and Rehabilitation, Umeå University, Umeå, Sweden; 5. Department of Women’s and Children’s Health, University of Uppsala, Uppsala, Sweden; 6. Department of Education and Special Education, University of Gothenburg, Gothenburg, Sweden; 7. Nationellt Center för Rett Syndrom & Närliggande Diagnoser, Frösön, Sweden
275
days
Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers – results from a nation-wide study in Germany
AuthorsJustine Hussong; Berenike Leibrock; Tabea Huelle; Hannah Mattheus; Erik Landfeldt; Simone Thiele; Maggie C. Walter; Michael Zemlin; Eva Moehler; Ulrich Dillmann; Marina Flotats‑Bastardas
Affiliations1. Department of Child and Adolescent Psychiatry, Saarland University, Homburg, Germany; 2. Department of Medicine, University of Saarland, Saarbruecken, Germany; 3. Clinical Psychology and Psychotherapy, Saarland University, Saarland, Germany; 4. IQVIA, Stockholm, Sweden; 5. Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU, Munich, Germany; 6. Department of General Pediatrics and Neonatology, Saarland University, Homburg, Germany; 7. Department of Neurology, Saarland University, Homburg, Germany; 8. Department of General Pediatrics and Neonatology, Division of Neuropaediatrics, Saarland University, Homburg, Germany
77
days
Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study
AuthorsBeth I. Solomon; Andrea M. Munoz; Aiden Borruso; Ninet Sinaii; Nicole Farhat; Derek Alexander; Desiree A. Labor; An Dang Do; Forbes D. Porter
Affiliations1. Speech-Language Pathology Section, Rehabilitation Medicine Department, Mark O. Hatfield Clinical Center, National Institutes of Health, Bethesda, USA; 2. Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA; 3. Biostatistics and Clinical Epidemiology Service, NIH Clinical Center, National Institutes of Health, Bethesda, USA
116
days
Transplantation as disease modifying therapy in the era of gene therapy medicinal products – health policy considerations
AuthorsMargreet Wagenmakers; Anna Lehman; Caroline den Hoed; Laura van Dussen; Mirjam Langeveld; Sandra Sirrs
Affiliations1. Department of Internal Medicine, Erasmus MC, Centre for Lysosomal and Metabolic Disease, University Medical Center Rotterdam, Rotterdam, The Netherlands; 2. Adult Metabolic Diseases Clinic, University of British Columbia, Vancouver, Canada; 3. Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center, Rotterdam, The Netherlands; 4. Department of Endocrinology and Metabolism, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism Research Institute, University of Amsterdam, Amsterdam, The Netherlands; 5. Division of Endocrinology, Department of Medicine, University of British Columbia, Vancouver, Canada
127
days
Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities
AuthorsGrazia Crescimanno; Oreste Marrone; Marta Lazzeri; Paolo Innocente Banfi; Agata Lax; Elena Compalati; Rosario Di Marco; Sabrina Planiscig; Paola Confalonieri; Fabrizio Seidita; Filippo Brighina; Marco Confalonieri
Affiliations1. 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, Italy
140
days
Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet–Biedl Syndrome: a pilot study
AuthorsTugce 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 Bas
Affiliations1. 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, Türkiye
391
days
Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council
AuthorsAgnès 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 Abdelbaky
Affiliations1. 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, Egypt
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SampleLatest 5 valid paper samples from 2026
Average review96.4 days
Median77 days