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For: Abu Bakar N, Lefeber DJ, van Scherpenzeel M. Clinical glycomics for the diagnosis of congenital disorders of glycosylation. J Inherit Metab Dis 2018;41:499-513. [PMID: 29497882 DOI: 10.1007/s10545-018-0144-9] [Cited by in Crossref: 28] [Cited by in F6Publishing: 21] [Article Influence: 9.3] [Reference Citation Analysis]
Number Citing Articles
1 Papazoglu GM, Cubilla M, Pereyra M, de Kremer RD, Pérez B, Sturiale L, Asteggiano CG. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis. Glycoconj J 2021;38:191-200. [PMID: 33644825 DOI: 10.1007/s10719-021-09976-w] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
2 Park JH, Mealer RG, Elias AF, Hoffmann S, Grüneberg M, Biskup S, Fobker M, Haven J, Mangels U, Reunert J, Rust S, Schoof J, Schwanke C, Smoller JW, Cummings RD, Marquardt T. N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency. J Inherit Metab Dis 2020;43:1370-81. [PMID: 32852845 DOI: 10.1002/jimd.12306] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
3 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]
4 Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R. ALG12-CDG: novel glycophenotype insights endorse the molecular defect. Glycoconj J 2019;36:461-72. [DOI: 10.1007/s10719-019-09890-2] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 5.5] [Reference Citation Analysis]
5 Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Brain Dev 2021:S0387-7604(21)00102-9. [PMID: 34092405 DOI: 10.1016/j.braindev.2021.05.013] [Reference Citation Analysis]
6 Barbosa EA, Fontes NDC, Santos SCL, Lefeber DJ, Bloch C, Brum JM, Brand GD. Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry. Clin Chim Acta 2019;492:102-13. [PMID: 30776362 DOI: 10.1016/j.cca.2019.02.013] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
7 Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. CDG Therapies: From Bench to Bedside. Int J Mol Sci 2018;19:E1304. [PMID: 29702557 DOI: 10.3390/ijms19051304] [Cited by in Crossref: 47] [Cited by in F6Publishing: 31] [Article Influence: 15.7] [Reference Citation Analysis]
8 Mealer RG, Jenkins BG, Chen CY, Daly MJ, Ge T, Lehoux S, Marquardt T, Palmer CD, Park JH, Parsons PJ, Sackstein R, Williams SE, Cummings RD, Scolnick EM, Smoller JW. The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation. Sci Rep 2020;10:13162. [PMID: 32753748 DOI: 10.1038/s41598-020-70108-9] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 14.0] [Reference Citation Analysis]
9 Tian W, Luan X, Zhou H, Zhang C, Huang X, Liu X, Chen S, Tang H, Cao L. Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. Neuromuscular Disorders 2019;29:282-9. [DOI: 10.1016/j.nmd.2019.01.001] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
10 Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, Jaeken J. The challenge of CDG diagnosis. Mol Genet Metab 2019;126:1-5. [PMID: 30454869 DOI: 10.1016/j.ymgme.2018.11.003] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 11.3] [Reference Citation Analysis]
11 Linders PTA, Peters E, Ter Beest M, Lefeber DJ, van den Bogaart G. Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation. Int J Mol Sci 2020;21:E4654. [PMID: 32629928 DOI: 10.3390/ijms21134654] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 6.0] [Reference Citation Analysis]
12 Wada Y. Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. Mass Spectrom (Tokyo) 2020;9:A0084. [PMID: 32547898 DOI: 10.5702/massspectrometry.A0084] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
13 Raynor A, Vincent-Delorme C, Alaix AS, Cholet S, Dupré T, Vuillaumier-Barrot S, Fenaille F, Besmond C, Bruneel A. Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue! Clin Chim Acta 2021;519:285-90. [PMID: 34022244 DOI: 10.1016/j.cca.2021.05.016] [Reference Citation Analysis]
14 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]
15 Saudubray JM, Mochel F, Lamari F, Garcia-Cazorla A. Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians. J Inherit Metab Dis 2019;42:706-27. [PMID: 30883825 DOI: 10.1002/jimd.12086] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
16 Hipgrave Ederveen AL, de Haan N, Baerenfaenger M, Lefeber DJ, Wuhrer M. Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation. Int J Mol Sci 2020;21:E7635. [PMID: 33076454 DOI: 10.3390/ijms21207635] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 4.0] [Reference Citation Analysis]
17 Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH; University of Washington Center for Mendelian Genomics. Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. J Inherit Metab Dis 2019;42:993-7. [PMID: 30945312 DOI: 10.1002/jimd.12091] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
18 Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, Wick M, Morava E. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. Mol Genet Metab 2020;131:424-9. [PMID: 33187827 DOI: 10.1016/j.ymgme.2020.11.003] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
19 Sturiale L, Nassogne MC, Palmigiano A, Messina A, Speciale I, Artuso R, Bertino G, Revencu N, Stephénne X, De Castro C, Matthijs G, Barone R, Jaeken J, Garozzo D. Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis. iScience 2021;24:102323. [PMID: 33889819 DOI: 10.1016/j.isci.2021.102323] [Reference Citation Analysis]
20 Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics. Jrnl of Inher Metab Disea 2020;43:25-35. [DOI: 10.1002/jimd.12130] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 8.0] [Reference Citation Analysis]
21 Oliveira T, Thaysen-Andersen M, Packer NH, Kolarich D. The Hitchhiker's guide to glycoproteomics. Biochem Soc Trans 2021:BST20200879. [PMID: 34282822 DOI: 10.1042/BST20200879] [Reference Citation Analysis]