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Gina L. Mazza

Mayo Clinic

SCHOLARLY PAPERS

2

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180

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Scholarly Papers (2)

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1.

Coagulation Abnormalities in a Prospective Cohort of 50 Patients with PMM2-Congenital Disorder of Glycosylation

Number of pages: 23 Posted: 13 Mar 2023
Diederik de Graef, Anna Ligezka, Joseph Rezents, Gina L. Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew Edmondson, Christin Johnsen, Tamas Kozicz and Eva Morava
Mayo Clinic, Mayo Clinic, Mayo Clinic, Mayo Clinic, Mayo Clinic, Mayo Clinic, Jagiellonian University in Krakow - Medical College, University of Washington - Department of Pediatrics, Mayo Clinic, Mayo Clinic, Mayo Clinic and Mayo Clinic
Downloads 96 (715,072)

Abstract:

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CDG, glycosylation, factor XI, antithrombin, thrombosis, abnormal coagulation, bleeding

2.

Goal Attainment in PMM2-CDG: A New Approach Measuring Meaningful Clinical Outcomes

Number of pages: 18 Posted: 15 Nov 2024
Eva Morava, Sanne Verberkmoes, Gina L. Mazza, Andrew Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel, Mirian Janssen, Jehan Mousa, Austin Larson, Rameen Shah, Georgia McDonald, Kyriakie Sarafoglou, Gerard T. Berry, Tamas Kozicz and Christina Lam
Mayo Clinic, Radboud University Nijmegen, Mayo Clinic, Mayo Clinic, affiliation not provided to SSRN, Seattle Children's Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Colorado Denver, affiliation not provided to SSRN, Mount Sinai School of Medicine, affiliation not provided to SSRN, Harvard University - Robert’s Program for Sudden Unexpected Death in Pediatrics, Mount Sinai School of Medicine and University of Washington
Downloads 84 (803,225)

Abstract:

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Goal attainment scaling, Phosphomannomutase, patient reported outcome, genotype-phenotype, Congenital Disorders of Glycosylation