Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency.

Autor: van Beers EJ; Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Al-Samkari H; Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA., Grace RF; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA., Barcellini W; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Glenthøj A; Danish Red Blood Cell Center, Department of Haematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., DiBacco M; Agios Pharmaceuticals, Inc, Cambridge, MA., Wind-Rotolo M; Agios Pharmaceuticals, Inc, Cambridge, MA., Xu R; Agios Pharmaceuticals, Inc, Cambridge, MA., Beynon V; Agios Pharmaceuticals, Inc, Cambridge, MA., Patel P; Agios Pharmaceuticals, Inc, Cambridge, MA., Porter JB; Haematology Department, University College London Hospitals, London, United Kingdom., Kuo KHM; Division of Hematology, University of Toronto, Toronto, ON, Canada.

Publikováno v: Blood advances [Blood Adv] 2024 May 28; Vol. 8 (10), pp. 2433-2441.

Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.

Autor: Tsuboyama M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA., Liu J; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, 1862Boston Children's Hospital, Boston, MA, USA., Kaye H; 12259Boston University School of Medicine, Behavioral Neuroscience Program, Boston, MA, USA., DiBacco M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA., Pearl PL; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA., Rotenberg A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA.; F.M. Kirby Neurobiology Center, 1862Boston Children's Hospital, Boston, MA, USA.; Berenson-Allen Center for Noninvasive Brain Stimulation, Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA.

Publikováno v: Journal of child neurology [J Child Neurol] 2021 Nov; Vol. 36 (13-14), pp. 1169-1176. Date of Electronic Publication: 2021 May 31.

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.

Autor: Kirby T; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Building Room 210C, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA., Walters DC; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Building Room 210C, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA., Shi X; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Building Room 210C, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA., Turgeon C; Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, USA., Rinaldo P; Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, USA., Arning E; Baylor Scott & White Research Institute, Institute of Metabolic Disease, Dallas, TX, USA., Ashcraft P; Baylor Scott & White Research Institute, Institute of Metabolic Disease, Dallas, TX, USA., Bottiglieri T; Baylor Scott & White Research Institute, Institute of Metabolic Disease, Dallas, TX, USA., DiBacco M; Department of Neurology, Pediatric Neurology, Harvard Medical School and Boston Children's Hospital, Boston, USA., Pearl PL; Department of Neurology, Pediatric Neurology, Harvard Medical School and Boston Children's Hospital, Boston, USA., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Building Room 210C, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Building Room 210C, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA. mike.gibson@wsu.edu.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 23; Vol. 15 (1), pp. 261. Date of Electronic Publication: 2020 Sep 23.

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P1548: LONG‐TERM TREATMENT WITH ORAL MITAPIVAT IS ASSOCIATED WITH NORMALIZATION OF HEMOGLOBIN LEVELS IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY.

Autor: Barcellini, W., Grace, R. F., Al‐Samkari, H., Glenthøj, A., Rothman, J. A., Morado Arias, M., Layton, D. M., Andres, O., DiBacco, M., Hawkins, P., Judge, M. P., Tai, F., Morales‐Arias, J., Beynon, V., van Beers, E. J.

Publikováno v: HemaSphere; 2022 Supplement 3, Vol. 6, p1429-1430, 2p