These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
168 related articles for article (PubMed ID: 35637269)
1. Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation. Tian Q; Shu L; Shu C; Xi H; Ma N; Mao X; Wang H Eur J Hum Genet; 2023 Dec; 31(12):1455-1457. PubMed ID: 35637269 [TBL] [Abstract][Full Text] [Related]
2. Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2. Fan S; Wu H; Wang R; Chen Q; Zhang X Mol Genet Genomic Med; 2024 Apr; 12(4):e2422. PubMed ID: 38622837 [TBL] [Abstract][Full Text] [Related]
3. MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG. Palmigiano A; Bua RO; Barone R; Rymen D; Régal L; Deconinck N; Dionisi-Vici C; Fung CW; Garozzo D; Jaeken J; Sturiale L J Mass Spectrom; 2017 Jun; 52(6):372-377. PubMed ID: 28444691 [TBL] [Abstract][Full Text] [Related]
4. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis. Papazoglu GM; Cubilla M; Pereyra M; de Kremer RD; Pérez B; Sturiale L; Asteggiano CG Glycoconj J; 2021 Apr; 38(2):191-200. PubMed ID: 33644825 [TBL] [Abstract][Full Text] [Related]
6. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Hiraide T; Wada Y; Matsubayashi T; Kadoya M; Masunaga Y; Ohkubo Y; Nakashima M; Okamoto N; Ogata T; Saitsu H Brain Dev; 2021 Oct; 43(9):945-951. PubMed ID: 34092405 [TBL] [Abstract][Full Text] [Related]
7. Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry. Barbosa EA; Fontes NDC; Santos SCL; Lefeber DJ; Bloch C; Brum JM; Brand GD Clin Chim Acta; 2019 May; 492():102-113. PubMed ID: 30776362 [TBL] [Abstract][Full Text] [Related]
8. DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. Elsharkawi I; Wongkittichote P; Daniel EJP; Starosta RT; Ueda K; Ng BG; Freeze HH; He M; Shinawi M J Inherit Metab Dis; 2023 Jan; 46(1):92-100. PubMed ID: 36214423 [TBL] [Abstract][Full Text] [Related]
9. N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency. 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 J Inherit Metab Dis; 2020 Nov; 43(6):1370-1381. PubMed ID: 32852845 [TBL] [Abstract][Full Text] [Related]
10. MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis. Yen-Nicolaÿ S; Boursier C; Rio M; Lefeber DJ; Pilon A; Seta N; Bruneel A Proteomics Clin Appl; 2015 Aug; 9(7-8):787-93. PubMed ID: 25641685 [TBL] [Abstract][Full Text] [Related]
11. Glycosylation Analysis for Congenital Disorders of Glycosylation. Li X; Raihan MA; Reynoso FJ; He M Curr Protoc Hum Genet; 2015 Jul; 86():17.18.1-17.18.22. PubMed ID: 26132001 [TBL] [Abstract][Full Text] [Related]
12. Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation. Wada Y; Okamoto N J Mass Spectrom; 2021 Apr; 56(4):e4597. PubMed ID: 32677746 [TBL] [Abstract][Full Text] [Related]
13. The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation. Sturiale L; Barone R; Garozzo D J Inherit Metab Dis; 2011 Aug; 34(4):891-9. PubMed ID: 21384227 [TBL] [Abstract][Full Text] [Related]
14. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Guillard M; Morava E; van Delft FL; Hague R; Körner C; Adamowicz M; Wevers RA; Lefeber DJ Clin Chem; 2011 Apr; 57(4):593-602. PubMed ID: 21273509 [TBL] [Abstract][Full Text] [Related]
15. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. Zhang W; James PM; Ng BG; Li X; Xia B; Rong J; Asif G; Raymond K; Jones MA; Hegde M; Ju T; Cummings RD; Clarkson K; Wood T; Boerkoel CF; Freeze HH; He M Clin Chem; 2016 Jan; 62(1):208-17. PubMed ID: 26430078 [TBL] [Abstract][Full Text] [Related]
16. Insights into complexity of congenital disorders of glycosylation. Goreta SS; Dabelic S; Dumic J Biochem Med (Zagreb); 2012; 22(2):156-70. PubMed ID: 22838182 [TBL] [Abstract][Full Text] [Related]
20. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. Wang Y; Tan J; Sutton-Smith M; Ditto D; Panico M; Campbell RM; Varki NM; Long JM; Jaeken J; Levinson SR; Wynshaw-Boris A; Morris HR; Le D; Dell A; Schachter H; Marth JD Glycobiology; 2001 Dec; 11(12):1051-70. PubMed ID: 11805078 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]