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For: 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: 5.7] [Reference Citation Analysis]
Number Citing Articles
1 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: 17] [Article Influence: 7.0] [Reference Citation Analysis]
2 Bucciol G, Meyts I. Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. F1000Res 2020;9:F1000 Faculty Rev-194. [PMID: 32226610 DOI: 10.12688/f1000research.21553.1] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
3 Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. Am J Med Genet A 2021;185:3494-501. [PMID: 34467644 DOI: 10.1002/ajmg.a.62474] [Reference Citation Analysis]
4 Tiwary H, Hecht LE, Brucker WJ, Berry GT, Rodig NM. The development of end stage renal disease in two patients with PMM2‐CDG. JIMD Reports. [DOI: 10.1002/jmd2.12269] [Reference Citation Analysis]
5 Gao C, Wei M, McKitrick TR, McQuillan AM, Heimburg-Molinaro J, Cummings RD. Glycan Microarrays as Chemical Tools for Identifying Glycan Recognition by Immune Proteins. Front Chem 2019;7:833. [PMID: 31921763 DOI: 10.3389/fchem.2019.00833] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 7.7] [Reference Citation Analysis]
6 Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH. Expanding the molecular and clinical phenotypes of FUT8-CDG. J Inherit Metab Dis 2020;43:871-9. [PMID: 32049367 DOI: 10.1002/jimd.12221] [Cited by in Crossref: 10] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
7 Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Am J Med Genet A 2021;185:213-8. [PMID: 33044030 DOI: 10.1002/ajmg.a.61914] [Reference Citation Analysis]
8 Wieczorek M, Braicu EI, Oliveira-Ferrer L, Sehouli J, Blanchard V. Immunoglobulin G Subclass-Specific Glycosylation Changes in Primary Epithelial Ovarian Cancer. Front Immunol 2020;11:654. [PMID: 32477323 DOI: 10.3389/fimmu.2020.00654] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
9 García-García A, Buendia Arellano M, Deyà-Martínez À, Lozano Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Yiyi L, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP, Alsina L. Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features. Pediatr Allergy Immunol 2021;32:566-75. [PMID: 33098103 DOI: 10.1111/pai.13398] [Reference Citation Analysis]
10 Lipiński P, Tylki-Szymańska A. Congenital Disorders of Glycosylation: What Clinicians Need to Know? Front Pediatr 2021;9:715151. [PMID: 34540767 DOI: 10.3389/fped.2021.715151] [Reference Citation Analysis]
11 Welch LG, Peak-Chew SY, Begum F, Stevens TJ, Munro S. GOLPH3 and GOLPH3L are broad-spectrum COPI adaptors for sorting into intra-Golgi transport vesicles. J Cell Biol 2021;220:e202106115. [PMID: 34473204 DOI: 10.1083/jcb.202106115] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22:268-279. [PMID: 31534212 DOI: 10.1038/s41436-019-0647-2] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 6.0] [Reference Citation Analysis]
13 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]
14 Hady-Cohen R, Dragoumi P, Barca D, Plecko B, Lerman-Sagie T, Zafeiriou D. Safety and recommendations for vaccinations of children with inborn errors of metabolism. Eur J Paediatr Neurol 2021;35:93-9. [PMID: 34673402 DOI: 10.1016/j.ejpn.2021.10.002] [Reference Citation Analysis]
15 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: 7.0] [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: 1.0] [Reference Citation Analysis]
17 Freeze HH. XMEN: welcome to the glycosphere. J Clin Invest 2020;130:80-2. [PMID: 31815737 DOI: 10.1172/JCI134240] [Reference Citation Analysis]
18 Blommaert E, Cherepanova NA, Staels F, Wilson MP, Gilmore R, Schrijvers R, Jaeken J, Foulquier F, Matthijs G. Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation. Hum Genet 2022. [PMID: 35182234 DOI: 10.1007/s00439-021-02400-1] [Reference Citation Analysis]
19 Francisco R, Brasil S, Pascoal C, Jaeken J, Liddle M, Videira PA, Dos Reis Ferreira V. The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ). Orphanet J Rare Dis 2022;17:134. [PMID: 35331276 DOI: 10.1186/s13023-022-02286-w] [Reference Citation Analysis]
20 Santos-Pereira C, Rodrigues LR, Côrte-Real M. Emerging insights on the role of V-ATPase in human diseases: Therapeutic challenges and opportunities. Med Res Rev 2021;41:1927-64. [PMID: 33483985 DOI: 10.1002/med.21782] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
21 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]
22 Boyer SW, Johnsen C, Morava E. Nutrition interventions in congenital disorders of glycosylation. Trends Mol Med 2022:S1471-4914(22)00081-8. [PMID: 35562242 DOI: 10.1016/j.molmed.2022.04.003] [Reference Citation Analysis]
23 Accogli A, Radenkovic S, Ranatunga W, Ligezka AN, Rivière JB, Morava E, Trakadis Y. Could distal variants in ALG13 lead to atypical clinical presentation? Eur J Med Genet 2022;:104473. [PMID: 35240324 DOI: 10.1016/j.ejmg.2022.104473] [Reference Citation Analysis]
24 Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol 2020;145:1008-11. [PMID: 31775018 DOI: 10.1016/j.jaci.2019.11.016] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]