246 related articles for article (PubMed ID: 34092405)
1. 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]
2. ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
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
Glycoconj J; 2019 Dec; 36(6):461-472. PubMed ID: 31529350
[TBL] [Abstract][Full Text] [Related]
3. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.
Tahata S; Gunderson L; Lanpher B; Morava E
Mol Genet Metab; 2019 Dec; 128(4):409-414. PubMed ID: 31481313
[TBL] [Abstract][Full Text] [Related]
4. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J
Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140
[TBL] [Abstract][Full Text] [Related]
5. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
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
Am J Med Genet A; 2021 Nov; 185(11):3494-3501. PubMed ID: 34467644
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
Grubenmann CE; Frank CG; Kjaergaard S; Berger EG; Aebi M; Hennet T
Hum Mol Genet; 2002 Sep; 11(19):2331-9. PubMed ID: 12217961
[TBL] [Abstract][Full Text] [Related]
8. A Novel Homozygous
Nicotera AG; Spoto G; Calì F; Romeo G; Musumeci A; Vinci M; Fiumara A; Barone R; Di Rosa G; Musumeci SA
Mol Syndromol; 2021 Aug; 12(5):327-332. PubMed ID: 34602961
[TBL] [Abstract][Full Text] [Related]
9. Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N; Ashikov A; Brum JM; Smeets R; Kersten M; Huijben K; Keng WT; Speck-Martins CE; de Carvalho DR; de Rizzo IMPO; de Mello WD; Heiner-Fokkema R; Gorman K; Grunewald S; Michelakakis H; Moraitou M; Martinelli D; van Scherpenzeel M; Janssen M; de Boer L; van den Heuvel LP; Thiel C; Lefeber DJ
J Inherit Metab Dis; 2022 Jul; 45(4):769-781. PubMed ID: 35279850
[TBL] [Abstract][Full Text] [Related]
10. Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.
Shanmugasundaram M; Wang A; Morand M; Bixler C; Jain S; Ray J
Am J Med Genet A; 2024 May; ():e63660. PubMed ID: 38717015
[TBL] [Abstract][Full Text] [Related]
11. CDG-Id in two siblings with partially different phenotypes.
Kranz C; Sun L; Eklund EA; Krasnewich D; Casey JR; Freeze HH
Am J Med Genet A; 2007 Jul; 143A(13):1414-20. PubMed ID: 17551933
[TBL] [Abstract][Full Text] [Related]
12. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E; Eklund EA; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
Eur J Hum Genet; 2016 Feb; 24(2):198-207. PubMed ID: 25966638
[TBL] [Abstract][Full Text] [Related]
13. A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Dancourt J; Vuillaumier-Barrot S; de Baulny HO; Sfaello I; Barnier A; le Bizec C; Dupre T; Durand G; Seta N; Moore SE
Pediatr Res; 2006 Jun; 59(6):835-9. PubMed ID: 16641202
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC; Ng BG; Moore SA; Rush J; Waechter CJ; Raymond KM; Willer T; Campbell KP; Freeze HH; Mehta L
Mol Genet Metab; 2013 Nov; 110(3):345-351. PubMed ID: 23856421
[TBL] [Abstract][Full Text] [Related]
16. ALG1-CDG: a new case with early fatal outcome.
Rohlfing AK; Rust S; Reunert J; Tirre M; Du Chesne I; Wemhoff S; Meinhardt F; Hartmann H; Das AM; Marquardt T
Gene; 2014 Jan; 534(2):345-51. PubMed ID: 24157261
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Murali C; Lu JT; Jain M; Liu DS; Lachman R; Gibbs RA; Lee BH; Cohn D; Campeau PM
Mol Genet Metab Rep; 2014; 1():213-219. PubMed ID: 25019053
[TBL] [Abstract][Full Text] [Related]
19. ALG11-CDG: novel variant and review of the literature.
Erdal AE; Ceylan AC; Gücüyener K; Öktem RM; Kıreker Köylü O; Kasapkara ÇS
J Pediatr Endocrinol Metab; 2023 Apr; 36(4):409-413. PubMed ID: 36843332
[TBL] [Abstract][Full Text] [Related]
20. ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.
Riess S; Reddihough DS; Howell KB; Dagia C; Jaeken J; Matthijs G; Yaplito-Lee J
Mol Genet Metab; 2013; 110(1-2):170-5. PubMed ID: 23791010
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]