Andrew C. Edmondson - Department of Microbiology and Molecular Biology, Brigham Young University

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论文共 105 篇作者统计合作学者相似作者

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Biochemical Testing for Congenital Disorders of Glycosylation: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG)

Patricia L Hall,Christina Lam,Lynne Wolfe,Andrew Edmondson, Acmg Laboratory Quality Assurance Committee

Genetics in medicine official journal of the American College of Medical Geneticsno. 4 (2025): 101328-101328

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Causes of Mortality in the Congenital Disorders of Glycosylation

Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins,Fernando Scaglia,Christina Lam,Eva Morava,Austin Larson,Andrew C. Edmondson

Molecular Genetics and Metabolismpp.109052, (2025)

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

Sanne Verberkmoes,Gina L Mazza,Andrew C Edmondson,Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel,Mirian C H Janssen,Jehan Mousa,Austin Larson,Rameen Shah, Georgia McDonald,Kyriaki Sarafoglou, Gerard Berry,Tamas Kozicz,Christina Lam,Eva Morava

Molecular genetics and metabolism（2025）

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Mapping the Diagnostic Odyssey of Congenital Disorders of Glycosylation (CDG): Insights from the Community

Pedro Granjo,Carlota Pascoal,Diana Gallego,Rita Francisco,Jaak Jaeken, Tristen Moors,Andrew C. Edmondson, Kristin A. Kantautas,Mercedes Serrano,Paula A. Videira,Vanessa dos Reis Ferreira

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-17

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Coagulation Abnormalities and Vascular Complications Are Common in PGM1-CDG

Silvia Radenkovic, Sofie Bleukx,Nicole Engelhardt,Erik Eklund,Saadet Mercimek-Andrews,Andrew C. Edmondson,Eva Morava

Molecular Genetics and Metabolismno. 4 (2024): 108530-108530

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Frontiers in Congenital Disorders of Glycosylation Consortium, a Cross-Sectional Study Report at Year 5 of 280 Individuals in the Natural History Cohort

Christina Lam,Fernando Scaglia,Gerard T. Berry,Austin Larson,Kyriakie Sarafoglou,Hans C. Andersson,Evgenia Sklirou,Queenie K. G. Tan,Rodrigo T. Starosta,Mustafa Sadek,Lynne Wolfe, Seishu Horikoshi,May Ali,Rita Barone, Teresa Campbell,Irene J. Chang, Kiaira Coles,Edward Cook,Erik A. Eklund,Nicole M. Engelhardt, Mary Freeman,Jennifer Friedman, Debbie Y. T. Fu, Grace Botzo, Brandy Rawls, Christien Hernandez,Christin Johnsen,Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski,Ivan Martinez-Duncker,Gina L. Mazza,Saadet Mercimek-Andrews,Bradley S. Miller,Karthik Muthusamy,Juanita Neira,Marc C. Patterson, Natalie Pogorelc, Lex N. Powers, Elizabeth Ramey,Michaela Reinhart,Audrey Squire,Jenny Thies Af,Jerry Vockley, Hayden Vreugdenhil,Peter Witters, Mehdi Youbi, Aziza Zeighami,Roni Zemet,Andrew C. Edmondson,Eva Morava

Molecular Genetics and Metabolism（2024）

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Missense Variant in PIGM Associated with Severe Cystic Encephalomalacia and Portal Vein Thrombosis: Phenotypic and Genotypic Expansion of the Glycosylphosphatidylinositol Biosynthesis Defect-1 (GPIBD1)

Lauren Brady, Rashmi Yadav,Andrew C. Edmondson,Mark Tarnopolsky

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 12 (2024)

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Deficient Glycan Extension and Endoplasmic Reticulum Stresses in ALG3-CDG

Earnest J. P. Daniel,Andrew C. Edmondson,Yair Argon,Hind Alsharhan,Christina Lam,Hudson H. Freeze,Miao He

Journal of Inherited Metabolic Disease (2024)

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