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For: Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. Clin Chem 2019;65:653-63. [PMID: 30770376 DOI: 10.1373/clinchem.2018.296780] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 8.0] [Reference Citation Analysis]
Number Citing Articles
1 Freeze HH. Improving biochemical markers for disorders of N-glycosylation. Ann Transl Med 2019;7:S176. [PMID: 31656755 DOI: 10.21037/atm.2019.07.79] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
2 Patabandige MW, Pfeifer LD, Nguyen HT, Desaire H. Quantitative clinical glycomics strategies: A guide for selecting the best analysis approach. Mass Spectrom Rev 2021. [PMID: 33565652 DOI: 10.1002/mas.21688] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
3 Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T. L-Fucose treatment of FUT8-CDG. Mol Genet Metab Rep 2020;25:100680. [PMID: 33312876 DOI: 10.1016/j.ymgmr.2020.100680] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
4 Bruneel A, Cholet S, Tran NT, Mai TD, Fenaille F. CDG biochemical screening: Where do we stand? Biochimica et Biophysica Acta (BBA) - General Subjects 2020;1864:129652. [DOI: 10.1016/j.bbagen.2020.129652] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 7.0] [Reference Citation Analysis]
5 Bruneel A, Fenaille F. Integrating mass spectrometry-based plasma (or serum) protein N-glycan profiling into the clinical practice? Ann Transl Med 2019;7:S225. [PMID: 31656804 DOI: 10.21037/atm.2019.08.04] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
6 Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM; CAUSES Study. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. Am J Hum Genet 2021;108:1342-9. [PMID: 34143952 DOI: 10.1016/j.ajhg.2021.05.010] [Reference Citation Analysis]
7 González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. Front Genet 2021;12:744884. [PMID: 34567092 DOI: 10.3389/fgene.2021.744884] [Reference Citation Analysis]
8 Gilfix BM. Congenital disorders of glycosylation and the challenge of rare diseases. Hum Mutat 2019;40:1010-2. [PMID: 31374155 DOI: 10.1002/humu.23829] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
9 Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis 2021;44:148-63. [PMID: 32681750 DOI: 10.1002/jimd.12286] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
10 Sosicka P, Ng BG, Freeze HH. Therapeutic Monosaccharides: Looking Back, Moving Forward. Biochemistry 2020;59:3064-77. [PMID: 31398011 DOI: 10.1021/acs.biochem.9b00565] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
11 Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis 2021;44:1001-12. [PMID: 33734437 DOI: 10.1002/jimd.12378] [Reference Citation Analysis]
12 Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA, Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C; University of Washington Center for Mendelian Genomics (UW-CMG). Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis 2021;44:987-1000. [PMID: 33583022 DOI: 10.1002/jimd.12367] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Congenital disorders of glycosylation: Still "hot" in 2020. Biochim Biophys Acta Gen Subj 2021;1865:129751. [PMID: 32991969 DOI: 10.1016/j.bbagen.2020.129751] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 8.0] [Reference Citation Analysis]