Andrew Edmondson
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Explore the profile of Andrew Edmondson including associated specialties, affiliations and a list of published articles.
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9
Citations
109
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Recent Articles
1.
Hall P, Lam C, Wolfe L, Edmondson A, Acmg Laboratory Quality Assurance Committee
Genet Med
. 2025 Feb;
:101328.
PMID: 39945761
Congenital disorders of glycosylation (CDG) are a large and continually expanding group of disorders that present with a variety of clinical findings and have been linked to over 170 genes....
2.
Ligezka A, Budhraja R, Nishiyama Y, Fiesel F, Preston G, Edmondson A, et al.
Genes (Basel)
. 2023 Aug;
14(8).
PMID: 37628636
Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can...
3.
Radenkovic S, Ligezka A, Mokashi S, Driesen K, Dukes-Rimsky L, Preston G, et al.
Cell Rep Med
. 2023 May;
4(6):101056.
PMID: 37257447
Abnormal polyol metabolism is predominantly associated with diabetes, where excess glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol metabolism has been implicated in phosphomannomutase 2 congenital...
4.
Wongkittichote P, Edmondson A, Hong X
Clin Chem
. 2023 Apr;
69(4):431-432.
PMID: 37011002
No abstract available.
5.
Szigety K, Crowley T, Gaiser K, Chen E, Priestley J, Williams L, et al.
Pediatrics
. 2022 Jun;
150(1).
PMID: 35642503
Background And Objectives: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived...
6.
Ligezka A, Mohamed A, Pascoal C, Dos Reis Ferreira V, Boyer S, Lam C, et al.
Mol Genet Metab
. 2022 May;
136(2):145-151.
PMID: 35491370
Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs...
7.
Witters P, Tahata S, Barone R, Ounap K, Salvarinova R, Gronborg S, et al.
Genet Med
. 2020 Feb;
22(6):1102-1107.
PMID: 32103184
Purpose: We studied galactose supplementation in SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), caused by monoallelic pathogenic variants in SLC35A2 (Xp11.23), encoding the endoplasmic reticulum (ER) and Golgi UDP-galactose transporter. Patients present...
8.
Chen J, Li X, Edmondson A, Ditewig Meyers G, Izumi K, Ackermann A, et al.
Clin Chem
. 2019 Feb;
65(5):653-663.
PMID: 30770376
Background: Congenital disorders of glycosylation (CDG) represent 1 of the largest groups of metabolic disorders with >130 subtypes identified to date. The majority of CDG subtypes are disorders of -linked...
9.
Ganetzky R, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff M, Bennett M, et al.
JIMD Rep
. 2016 Feb;
30:33-37.
PMID: 26920905
Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads...
10.
Ganetzky R, Izumi K, Edmondson A, Muraresku C, Zackai E, Deardorff M, et al.
Am J Med Genet A
. 2015 Jun;
167A(10):2411-7.
PMID: 26033833
Congenital disorders of Glycosylation (CDG) are increasingly emerging as a major underlying etiology for patients with complex neurogenetic malformations and dysmorphic features. We describe a newborn female with arthrogryposis multiplex...