147 related articles for article (PubMed ID: 22305527)
1. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
Jones MA; Ng BG; Bhide S; Chin E; Rhodenizer D; He P; Losfeld ME; He M; Raymond K; Berry G; Freeze HH; Hegde MR
Am J Hum Genet; 2012 Feb; 90(2):363-8. PubMed ID: 22305527
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Kas SM; Mundra PA; Smith DL; Marais R
Sci Rep; 2023 Oct; 13(1):17648. PubMed ID: 37848450
[TBL] [Abstract][Full Text] [Related]
4. Biochemical diagnosis of congenital disorders of glycosylation.
Raynor A; Haouari W; Lebredonchel E; Foulquier F; Fenaille F; Bruneel A
Adv Clin Chem; 2024; 120():1-43. PubMed ID: 38762238
[TBL] [Abstract][Full Text] [Related]
5. Congenital disorders of glycosylation: narration of a story through its patents.
Monticelli M; D'Onofrio T; Jaeken J; Morava E; Andreotti G; Cubellis MV
Orphanet J Rare Dis; 2023 Aug; 18(1):247. PubMed ID: 37644541
[TBL] [Abstract][Full Text] [Related]
6. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
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
Am J Hum Genet; 2021 Jul; 108(7):1342-1349. PubMed ID: 34143952
[TBL] [Abstract][Full Text] [Related]
7. Normal transferrin glycosylation does not rule out severe ALG1 deficiency.
Bosnyak I; Sadek M; Ranatunga W; Kozicz T; Morava E
JIMD Rep; 2024 May; 65(3):135-143. PubMed ID: 38736633
[TBL] [Abstract][Full Text] [Related]
8. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG; Sosicka P; Agadi S; Almannai M; Bacino CA; Barone R; Botto LD; Burton JE; Carlston C; Chung BH; Cohen JS; Coman D; Dipple KM; Dorrani N; Dobyns WB; Elias AF; Epstein L; Gahl WA; Garozzo D; Hammer TB; Haven J; Héron D; Herzog M; Hoganson GE; Hunter JM; Jain M; Juusola J; Lakhani S; Lee H; Lee J; Lewis K; Longo N; Lourenço CM; Mak CCY; McKnight D; Mendelsohn BA; Mignot C; Mirzaa G; Mitchell W; Muhle H; Nelson SF; Olczak M; Palmer CGS; Partikian A; Patterson MC; Pierson TM; Quinonez SC; Regan BM; Ross ME; Guillen Sacoto MJ; Scaglia F; Scheffer IE; Segal D; Singhal NS; Striano P; Sturiale L; Symonds JD; Tang S; Vilain E; Willis M; Wolfe LA; Yang H; Yano S; Powis Z; Suchy SF; Rosenfeld JA; Edmondson AC; Grunewald S; Freeze HH
Hum Mutat; 2019 Jul; 40(7):908-925. PubMed ID: 30817854
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Congenital disorders of glycosylation (CDG): state of the art in 2022.
Francisco R; Brasil S; Poejo J; Jaeken J; Pascoal C; Videira PA; Dos Reis Ferreira V
Orphanet J Rare Dis; 2023 Oct; 18(1):329. PubMed ID: 37858231
[TBL] [Abstract][Full Text] [Related]
11. Homozygous truncating variant in
Mahajan S; Ng BG; AlAbdi L; Earnest PDJ; Sosicka P; Patel N; Helaby R; Abdulwahab F; He M; Alkuraya FS; Freeze HH
J Med Genet; 2023 Jul; 60(7):627-635. PubMed ID: 36357165
[TBL] [Abstract][Full Text] [Related]
12. A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
Feichtinger RG; Hüllen A; Koller A; Kotzot D; Grote V; Rapp E; Hofbauer P; Brugger K; Thiel C; Mayr JA; Wortmann SB
EMBO Mol Med; 2021 Sep; 13(9):e14332. PubMed ID: 34468083
[TBL] [Abstract][Full Text] [Related]
13. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S; Ng BG; White AL; Nickander KK; Turgeon C; Liedtke KL; Lam CT; Font-Montgomery E; Lourenco CM; He M; Peck DS; Umana LA; Uhles CL; Haynes D; Wheeler PG; Bamshad MJ; Nickerson DA; Cushing T; Gates R; Gomez-Ospina N; Byers HM; ; Scalco FB; Martinez NN; Sachdev R; Smith L; Poduri A; Malone S; Harris RV; Scheffer IE; Rosenzweig SD; Adams DR; Gahl WA; Malicdan MCV; Raymond KM; Freeze HH; Wolfe LA
J Med Genet; 2022 Jul; ():. PubMed ID: 35790351
[TBL] [Abstract][Full Text] [Related]
14. Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.
Tonin R; Feo F; Falliano S; Ferri L; Giunti L; Calamai M; Procopio E; Mari F; Conti V; Fanelli I; Bambi F; Guerrini R; Morrone A
Stem Cell Res; 2023 Dec; 73():103235. PubMed ID: 38323760
[TBL] [Abstract][Full Text] [Related]
15. Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
Sakson R; Beedgen L; Bernhard P; Alp KM; Lübbehusen N; Röth R; Niesler B; Luzarowski M; Shevchuk O; Mayer MP; Thiel C; Ruppert T
Int J Mol Sci; 2024 Jan; 25(2):. PubMed ID: 38256263
[TBL] [Abstract][Full Text] [Related]
16. A
Hyde LF; Kong Y; Zhao L; Rao SR; Wang J; Stone L; Njaa A; Collin GB; Krebs MP; Chang B; Fliesler SJ; Nishina PM; Naggert JK
Int J Mol Sci; 2022 Oct; 23(19):. PubMed ID: 36233305
[TBL] [Abstract][Full Text] [Related]
17. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L; Grüneberg M; Reunert J; Rust S; Park J; Westermann C; Wada Y; Schwartz O; Marquardt T
JIMD Rep; 2021 Jul; 60(1):42-55. PubMed ID: 34258140
[TBL] [Abstract][Full Text] [Related]
18. An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.
Calvo PL; Spada M; Rabbone I; Pinon M; Porta F; Cisarò F; Reggiani S; Cefalù AB; Sturiale L; Garozzo D; Lefeber DJ; Jaeken J
JIMD Rep; 2018; 38():97-100. PubMed ID: 28643274
[TBL] [Abstract][Full Text] [Related]
19. Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu).
Fang Y; Wang YZ; Chen L; Xie XB
Front Genet; 2023; 14():1264237. PubMed ID: 38075676
[No Abstract] [Full Text] [Related]
20. NANS-CDG: Expanding clinical insights with a novel patient with novel variants.
Yoo S; Cheon CK
Am J Med Genet A; 2024 Jun; ():e63721. PubMed ID: 38822623
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
