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Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

Autor: De Graef D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Ligezka AN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Medyczna 9, 30-688 Krakow, Poland., Rezents J; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Mazza GL; Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ, USA., Preston G; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Schwartz K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Krzysciak W; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Medyczna 9, 30-688 Krakow, Poland., Lam C; Section of Biochemical Genetics, Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, USA., Edmondson AC; Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, USA., Johnsen C; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Pediatric and Adolescent Medicine, University Medicine Göttingen, Göttingen, Germany., Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Department of Medical Genetics, University of Pecs, Pecs, Hungary. Electronic address: Morava-Kozicz.Eva@Mayo.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 Jun; Vol. 139 (2), pp. 107606. Date of Electronic Publication: 2023 May 09.

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Patient-reported outcomes and quality of life in PMM2-CDG.

Autor: Ligezka AN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Medyczna 9, 30-688 Krakow, Poland., Mohamed A; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Pascoal C; UCIBIO, Departamento Ciências da Vida, NOVA School of Science and Technology, NOVA University of Lisbon, Associate Laboratory i4HB - Institute for Health and Bioeconomy, School of Science and Technology, 2819-516 Caparica, Portugal; Portuguese Association for CDG, Lisboa, CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Portugal., Ferreira VDR; UCIBIO, Departamento Ciências da Vida, NOVA School of Science and Technology, NOVA University of Lisbon, Associate Laboratory i4HB - Institute for Health and Bioeconomy, School of Science and Technology, 2819-516 Caparica, Portugal; Portuguese Association for CDG, Lisboa, CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Portugal., Boyer S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Edmondson A; Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Krzysciak W; Department of Medical Diagnostics, Faculty of Pharmacy, Jagiellonian University Medical College, Medyczna 9, 30-688 Krakow, Poland., Golebiowski R; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN 55905, USA., Perez-Ortiz J; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Metabolic disease center, University Hospitals Leuven, Leuven, Belgium. Electronic address: Morava-Kozicz.Eva@Mayo.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2022 Jun; Vol. 136 (2), pp. 145-151. Date of Electronic Publication: 2022 Apr 20.

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