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For: 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]
Number Citing Articles
1 Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience. J Pediatr 2021;231:148-56. [PMID: 33340551 DOI: 10.1016/j.jpeds.2020.12.026] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
2 Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. Orphanet J Rare Dis 2021;16:20. [PMID: 33413482 DOI: 10.1186/s13023-020-01630-2] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
3 Houdou M, Foulquier F. Anomalies congénitales de la glycosylation (CDG): 1980-2020, 40 ans pour comprendre. Med Sci (Paris) 2020;36:735-46. [DOI: 10.1051/medsci/2020128] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Bogdańska A, Lipiński P, Szymańska-Rożek P, Jankowska I, Socha P, Tylki-Szymańska A. Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities. Front Pediatr 2020;8:613224. [PMID: 33520896 DOI: 10.3389/fped.2020.613224] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
5 Ravell JC, Chauvin SD, He T, Lenardo M. An Update on XMEN Disease. J Clin Immunol 2020;40:671-81. [PMID: 32451662 DOI: 10.1007/s10875-020-00790-x] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 14.0] [Reference Citation Analysis]
6 Lipiński P, Cielecka-Kuszyk J, Czarnowska E, Bogdańska A, Socha P, Tylki-Szymańska A. Congenital disorders of glycosylation in children - Histopathological and ultrastructural changes in the liver. Pediatr Neonatol 2021;62:278-83. [PMID: 33663989 DOI: 10.1016/j.pedneo.2021.01.017] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 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]
8 Lipiński P, Bogdańska A, Socha P, Tylki-Szymańska A. Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation. Front Pediatr 2021;9:696918. [PMID: 34291020 DOI: 10.3389/fped.2021.696918] [Reference Citation Analysis]
9 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]
10 Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J, Zalewski C, Adams D, Warner BM, Huryn LA, Hufnagel RB. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. Am J Med Genet C Semin Med Genet 2020;184:618-30. [PMID: 32866347 DOI: 10.1002/ajmg.c.31823] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
11 Lipiński P, Rokicki D, Bogdańska A, Lesiak J, Lefeber DJ, Tylki-Szymańska A. ATP6AP1-CDG: Follow-up and female phenotype. JIMD Rep 2020;53:80-2. [PMID: 32395412 DOI: 10.1002/jmd2.12104] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
12 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]
13 Jansen JC, van Hoek B, Metselaar HJ, van den Berg AP, Zijlstra F, Huijben K, van Scherpenzeel M, Drenth JPH, Lefeber DJ. Screening for abnormal glycosylation in a cohort of adult liver disease patients. J Inherit Metab Dis 2020;43:1310-20. [PMID: 32557671 DOI: 10.1002/jimd.12273] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
14 Slaba K, Noskova H, Vesela P, Tuckova J, Jicinska H, Honzik T, Hansikova H, Kleiblova P, Stourac P, Jabandziev P, Slaby O, Prochazkova D. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. Front Genet 2020;11:561054. [PMID: 33133147 DOI: 10.3389/fgene.2020.561054] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Nicotera AG, Spoto G, Calì F, Romeo G, Musumeci A, Vinci M, Fiumara A, Barone R, Di Rosa G, Musumeci SA. A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype. Mol Syndromol 2021;12:327-32. [PMID: 34602961 DOI: 10.1159/000516606] [Reference Citation Analysis]
16 Francisco R, Pascoal C, Marques-da-Silva D, Brasil S, Pimentel-Santos FM, Altassan R, Jaeken J, Grosso AR, Dos Reis Ferreira V, Videira PA. New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach. J Clin Med 2020;9:E2092. [PMID: 32635232 DOI: 10.3390/jcm9072092] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
17 Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). Cerebellum 2021;20:596-605. [PMID: 33619652 DOI: 10.1007/s12311-021-01242-x] [Reference Citation Analysis]
18 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]
19 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]
20 Lipiński P, Bogdańska A, Tylki-Szymańska A. Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population. Mol Genet Metab Rep 2021;27:100726. [PMID: 33643843 DOI: 10.1016/j.ymgmr.2021.100726] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
21 Pascoal C, Francisco R, Ferro T, Dos Reis Ferreira V, Jaeken J, Videira PA. CDG and immune response: From bedside to bench and back. J Inherit Metab Dis 2020;43:90-124. [PMID: 31095764 DOI: 10.1002/jimd.12126] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 8.5] [Reference Citation Analysis]
22 Bogdańska A, Lipiński P, Szymańska-Rożek P, Jezela-Stanek A, Rokicki D, Socha P, Tylki-Szymańska A. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. Orphanet J Rare Dis 2021;16:17. [PMID: 33407696 DOI: 10.1186/s13023-020-01657-5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
23 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]
24 Dubail J, Cormier-Daire V. Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis. Front Genet 2021;12:642097. [PMID: 34220933 DOI: 10.3389/fgene.2021.642097] [Reference Citation Analysis]
25 Magalhães APPSD, Burin MG, Souza CFMD, de Bitencourt FH, Sebastião FM, Silva TO, Vairo FPE, Schwartz IVD. Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. Jornal de Pediatria 2020;96:710-6. [DOI: 10.1016/j.jped.2019.05.008] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 5.0] [Reference Citation Analysis]
26 Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH; University of Washington Center for Mendelian Genomics (UW-CMG). A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. Am J Hum Genet 2021;108:1040-52. [PMID: 33964207 DOI: 10.1016/j.ajhg.2021.04.013] [Reference Citation Analysis]
27 Brasil S, Pascoal C, Francisco R, Dos Reis Ferreira V, Videira PA, Valadão AG. Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? Genes (Basel) 2019;10:E978. [PMID: 31783696 DOI: 10.3390/genes10120978] [Cited by in Crossref: 21] [Cited by in F6Publishing: 12] [Article Influence: 10.5] [Reference Citation Analysis]
28 Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S. Congenital Disorders of Glycosylation from a Neurological Perspective. Brain Sci 2021;11:88. [PMID: 33440761 DOI: 10.3390/brainsci11010088] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
29 Paprocka J, Jezela-Stanek A, Boguszewicz Ł, Sokół M, Lipiński P, Jamroz E, Emich-Widera E, Tylki-Szymańska A. The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant. Children (Basel) 2021;8:251. [PMID: 33807002 DOI: 10.3390/children8030251] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
30 Komlosi K, Gläser S, Kopp J, Hotz A, Alter S, Zimmer AD, Beger C, Heinzel S, Schmidt C, Fischer J. Neonatal presentation of COG6-CDG with prominent skin phenotype. JIMD Rep 2020;55:51-8. [PMID: 32905044 DOI: 10.1002/jmd2.12154] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]