215 related articles for article (PubMed ID: 33129689)
1. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S; Fitzpatrick-Schmidt T; Byeon SK; Madugundu AK; Saraswat M; Lichty A; Wong SYW; McGee S; Kubiak K; Ligezka A; Ranatunga W; Zhang Y; Wood T; Friez MJ; Clarkson K; Pandey A; Jones JR; Morava E
Mol Genet Metab; 2021 Jan; 132(1):27-37. PubMed ID: 33129689
[TBL] [Abstract][Full Text] [Related]
2. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
[TBL] [Abstract][Full Text] [Related]
3. ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK; Ng BG; Gallant NM; Singh KE; Brown C; Kimonis V; Freeze HH; Muller EA
Am J Med Genet A; 2019 Mar; 179(3):498-502. PubMed ID: 30676690
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E; Tiemes V; Thiel C; Seta N; de Lonlay P; de Klerk H; Mulder M; Rubio-Gozalbo E; Visser G; van Hasselt P; Horovitz DDG; de Souza CFM; Schwartz IVD; Green A; Al-Owain M; Uziel G; Sigaudy S; Chabrol B; van Spronsen FJ; Steinert M; Komini E; Wurm D; Bevot A; Ayadi A; Huijben K; Dercksen M; Witters P; Jaeken J; Matthijs G; Lefeber DJ; Wevers RA
J Inherit Metab Dis; 2016 Sep; 39(5):713-723. PubMed ID: 27287710
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Altassan R; Allers MM; De Graef D; Shah R; de Vries M; Larson A; Glamuzina E; Morava E
Mol Genet Metab; 2023 Nov; 140(3):107688. PubMed ID: 37647829
[TBL] [Abstract][Full Text] [Related]
8. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
[TBL] [Abstract][Full Text] [Related]
9. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Nagy S; Lau T; Alavi S; Karimiani EG; Vallian J; Ng BG; Noroozi Asl S; Akhondian J; Bahreini A; Yaghini O; Uapinyoying P; Bonnemann C; Freeze HH; Dissanayake VHW; Sirisena ND; Schmidts M; Houlden H; Moreno-De-Luca A; Maroofian R
Clin Genet; 2022 Dec; 102(6):530-536. PubMed ID: 35932216
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Shah R; Eklund EA; Radenkovic S; Sadek M; Shammas I; Verberkmoes S; Ng BG; Freeze HH; Edmondson AC; He M; Kozicz T; Altassan R; Morava E
Mol Genet Metab; 2024 Jun; 142(2):108472. PubMed ID: 38703411
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Johnsen C; Tabatadze N; Radenkovic S; Botzo G; Kuschel B; Melikishvili G; Morava E
Mol Genet Metab; 2024 Jul; 142(3):108477. PubMed ID: 38805916
[TBL] [Abstract][Full Text] [Related]
14. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Ferrer A; Starosta RT; Ranatunga W; Ungar D; Kozicz T; Klee E; Rust LM; Wick M; Morava E
Mol Genet Metab; 2020 Dec; 131(4):424-429. PubMed ID: 33187827
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Weinstein M; Schollen E; Matthijs G; Neupert C; Hennet T; Grubenmann CE; Frank CG; Aebi M; Clarke JT; Griffiths A; Seargeant L; Poplawski N
Am J Med Genet A; 2005 Jul; 136(2):194-7. PubMed ID: 15945070
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Staretz-Chacham O; Noyman I; Wormser O; Abu Quider A; Hazan G; Morag I; Hadar N; Raymond K; Birk OS; Ferreira CR; Koifman A
Clin Genet; 2020 Jun; 97(6):920-926. PubMed ID: 32157688
[TBL] [Abstract][Full Text] [Related]
20. ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Y; Qiao C; Zheng S; Qiu H; Li H; Zhang Z; Yin S; Jiang H; Li-Ling J; Liu C; Lyu Y
J Hum Genet; 2020 Dec; 65(12):1129-1134. PubMed ID: 32655146
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
