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Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef, Diederik; Ligezka, Anna N; Rezents, Joseph; Mazza, Gina L; Preston, Graeme; Schwartz, Kaitlin; Krzysciak, Wirginia; Lam, Christina; Edmondson, Andrew C; Johnsen, Christin; Kozicz, Tamas; Morava, Eva.
Affiliation
  • 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.
Mol Genet Metab ; 139(2): 107606, 2023 06.
Article in En | MEDLINE | ID: mdl-37224763
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombosis / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombosis / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos