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Andrew C. Edmondson
Researcher at Children's Hospital of Philadelphia
Publications - 62
Citations - 5910
Andrew C. Edmondson is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 21, co-authored 46 publications receiving 5220 citations. Previous affiliations of Andrew C. Edmondson include University of Pennsylvania & Brigham Young University.
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Journal ArticleDOI
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Cechova,Tomas Honzik,Andrew C. Edmondson,Can Ficicioglu,Mercedes Serrano,Rita Barone,Pascale de Lonlay,Manuel Schiff,Peter Witters,Christina Lam,Marc C. Patterson,Mirian C. H. Janssen,Joana Correia,Dulce Quelhas,Jolanta Sykut-Cegielska,Horacio Plotkin,Eva Morava,Kyriakie Sarafoglou +17 more
TL;DR: In this article, the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production was investigated.
Journal ArticleDOI
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Daniah Albokhari,Bobby G. Ng,Alis Guberinic,Earnest James Paul Daniel,Nicole Engelhardt,Rita Barone,Agata Fiumara,Livia Garavelli,Gabriele Trimarchi,Lynne A. Wolfe,Kimiyo Raymond,Eva Morava,Miao He,Hudson H. Freeze,Christina Lam,Andrew C. Edmondson +15 more
TL;DR: This cohort includes the two oldest patients reported and further expands the phenotype of ALG8‐CDG to include stable intellectual disability, autism spectrum disorder and other neuropsychiatric symptoms and suggests a comprehensive evaluation and monitoring strategy to improve clinical management.
Journal ArticleDOI
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants
I. Geiculescu,Jason E. Dranove,Graham H Cosper,Andrew C. Edmondson,Eva Morava-Kozicz,Lauren B. Carter +5 more
TL;DR: It is reported a 9‐month‐old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated withGMPPA‐CDG.
Journal Article
Abstract 2077: A Novel GWAS Atherosclerosis Locus Regulates Plasma Levels of CXCL12
Nehal N. Mehta,Dilusha A. William,Leticia Pruscino,Amit Khera,Andrew C. Edmondson,Atif Qasim,Stephanie Restine,Christine C. Hinkle,Jing He,Ioannis M. Stylianou,Mingyao Li,Daniel J. Rader,Muredach P. Reilly +12 more
TL;DR: It is shown for the first time that there is a relationship between variation in a novel GWAS atherosclerosis locus downstream of CXCL12 , and plasma protein levels of C XCL12, which implicates the CxCL12 gene as being causal in this GWAS CAD signal and that plasma CXcl12 levels may be atheroprotective.
Journal ArticleDOI
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association
Hana Alharbi,Earnest James Paul Daniel,Jenny Thies,Irene J. Chang,Dana Goldner,Bobby G. Ng,Peter Witters,Amal Aqul,Frances Velez-Bartolomei,Gregory M. Enns,Evelyn K. Hsu,Elizabeth Kichula,Esther Lee,Charles Lourenco,Sheri A Poskanzer,Sara Rasmussen,Katelyn Saarela,Yunzu Michele Wang,Kimiyo Raymond,Matthew D. Schultz,Hudson H. Freeze,Christina Lam,Andrew C. Edmondson,Miao He +23 more
TL;DR: In this article , the authors performed N-glycan profiling of total and fractionated plasma proteins for six patients and show associations with varying phenotypes, demonstrating potential diagnostic and prognostic value of fractionated N−glycan profiles.