L
Laurie A. Demmer
Researcher at Washington University in St. Louis
Publications - 3
Citations - 51
Laurie A. Demmer is an academic researcher from Washington University in St. Louis. The author has contributed to research in topics: Binding domain & Mannose. The author has an hindex of 3, co-authored 3 publications receiving 42 citations.
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Journal ArticleDOI
ALG1-CDG: clinical and molecular characterization of 39 unreported patients
Bobby G. Ng,Sergey A. Shiryaev,Daisy Rymen,Erik A. Eklund,Kimiyo Raymond,Martin Kircher,Jose E. Abdenur,Jose E. Abdenur,Füsun Alehan,Alina T. Midro,Michael J. Bamshad,Rita Barone,Gerard T. Berry,Jane E. Brumbaugh,Kati J. Buckingham,Katie Clarkson,F. Sessions Cole,Shawn O'Connor,Gregory M. Cooper,Rudy Van Coster,Laurie A. Demmer,Luísa Diogo,Alex J. Fay,Can Ficicioglu,Agata Fiumara,William A. Gahl,Rebecca D. Ganetzky,Himanshu Goel,Lyndsay A. Harshman,Miao He,Jaak Jaeken,Philip James,Daniel Katz,Liesbeth Keldermans,Maria Kibaek,Andrew J. Kornberg,Katherine Lachlan,Christina Lam,Joy Yaplito-Lee,Deborah A. Nickerson,Heidi Peters,Valerie Race,Luc Régal,Jeffrey S. Rush,S. Lane Rutledge,Jay Shendure,Erika Souche,Susan Sparks,Pamela Trapane,Amarilis Sanchez-Valle,Eric Vilain,Arve Vøllo,Charles J. Waechter,Raymond Y. Wang,Raymond Y. Wang,Lynne A. Wolfe,Derek Wong,Tim Wood,Amy Yang,Gert Matthijs,Hudson H. Freeze +60 more
TL;DR: The number of known patients and previously unreported cases of ALG1‐CDG are identified and characterized, and the recently identified protein‐linked xeno‐tetrasaccharide biomarker, NeuAc‐Gal‐GlcNAc2, was seen in all 27 patients tested.
Journal ArticleDOI
Grouped papules in Hurler-Scheie syndrome
TL;DR: In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (I H/S), an initial presentation was grouped papules on the extensor surfaces on the upper portions of the arms and legs, consistent withHurler- Scheie syndrome.