Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.

Autor: Istaiti M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Revel-Vilk S; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jeursalem, Jerusalem, Israel., Becker-Cohen M; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Dinur T; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel., Ramaswami U; Lysosomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK., Castillo-Garcia D; Department of Lysosomal Diseases, Hospital Infantil de México Federico Gómez, Ciudad de México, Mexico., Ceron-Rodriguez M; Department of Lysosomal Diseases, Hospital Infantil de México Federico Gómez, Ciudad de México, Mexico., Chan A; Department of Medical Genetics, University of Alberta Edmonton, Edmonton, Alberta, Canada., Rodic P; Department of Hematology and Oncology, University Children's Hospital, Belgrade, Serbia.; Faculty of Medicine, University of Belgrade, Beograd, Serbia., Tincheva RS; Department of Clinical Genetics, University Pediatric Hospital, Sofia, Bulgaria., Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Lee BH; Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea., Yang CF; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.; School of Medicine, National Yang-Ming University, Taipei, Taiwan., Kiec-Wilk B; Clinical Department of Metabolic Diseases and Diabetology, University Hospital in Krakow, Krakow, Poland.; Department of Metabolic Diseases, Jagiellonian University Medical College, Krakow, Poland., Fiumara A; Regional Referral Centre for Inborn Errors Metabolism, Paediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Rubio B; Paediatric Department, Hospital Universitario de Getafe, Madrid, Spain., Zimran A; Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jeursalem, Jerusalem, Israel.

Publikováno v: American journal of hematology [Am J Hematol] 2021 May 01; Vol. 96 (5), pp. 545-551. Date of Electronic Publication: 2021 Mar 11.

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

Autor: Dimitrova-Mladenova MS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria. Electronic address: mihaela_mail@abv.bg., Stefanova EM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Glushkova M; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorova AP; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Todorov T; Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria., Konstantinova MM; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Kazakova K; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria., Tincheva RS; Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.

Publikováno v: The Journal of pediatrics [J Pediatr] 2016 Dec; Vol. 179, pp. 263-265. Date of Electronic Publication: 2016 Sep 15.

First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.

Autor: Avdjieva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG, Tincheva RS

Publikováno v: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2014; Vol. 25 (3), pp. 271-6.

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.

Autor: Hornby, Brittany¹ (AUTHOR), Thompson, William Reid² (AUTHOR), Almuqbil, Mohammed³ (AUTHOR), Manuel, Ryan⁴ (AUTHOR), Abbruscato, Anthony⁵ (AUTHOR), Carr, Jim⁵ (AUTHOR), Vernon, Hilary J.⁴ (AUTHOR) hvernon1@jhmi.edu

Publikováno v: Orphanet Journal of Rare Diseases. 9/2/2022, Vol. 17 Issue 1, p1-9. 9p.

Drug Repurposing of Generic Drugs: Challenges and the Potential Role for Government.

Autor: van der Pol KH; Department of Internal Medicine, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Aljofan M; Department of Biomedical Science, Nazarbayev University School of Medicine, Nur-Sultan, Kazakhstan.; National Laboratory Astana, Nazarbayev University, Astana, 010000, Kazakhstan., Blin O; Institut de Neurosciences des Systèmes, Aix Marseille Université, Inserm UMR 1106, Marseille, France., Cornel JH; Department of Cardiology, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Cardiology, Northwest Clinics, Alkmaar, The Netherlands., Rongen GA; Department of Internal Medicine, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Gerard.Rongen@radboudumc.nl., Woestelandt AG; Spedding Research Solutions SAS, 78110, Le Vesinet, France., Spedding M; Spedding Research Solutions SAS, 78110, Le Vesinet, France.

Publikováno v: Applied health economics and health policy [Appl Health Econ Health Policy] 2023 Nov; Vol. 21 (6), pp. 831-840. Date of Electronic Publication: 2023 Jul 03.