217 related articles for article (PubMed ID: 23430200)
21. Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Tahata S; Weckwerth J; Ligezka A; He M; Lee HE; Heimbach J; Ibrahim SH; Kozicz T; Furuya K; Morava E
Mol Genet Metab; 2023 Apr; 138(4):107559. PubMed ID: 36965289
[TBL] [Abstract][Full Text] [Related]
22. Renal involvement in PMM2-CDG, a mini-review.
Altassan R; Witters P; Saifudeen Z; Quelhas D; Jaeken J; Levtchenko E; Cassiman D; Morava E
Mol Genet Metab; 2018 Mar; 123(3):292-296. PubMed ID: 29229467
[TBL] [Abstract][Full Text] [Related]
23. [Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].
Ren C; Fang F; Huang Y; Cheng H; Dai L
Zhonghua Er Ke Za Zhi; 2015 Dec; 53(12):938-42. PubMed ID: 26887550
[TBL] [Abstract][Full Text] [Related]
24. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Budhraja R; Radenkovic S; Jain A; Muffels IJJ; Ismaili MHA; Kozicz T; Pandey A; Morava E
Mol Genet Metab; 2024 Jun; 142(2):108487. PubMed ID: 38733638
[TBL] [Abstract][Full Text] [Related]
25. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R; Péanne R; Jaeken J; Barone R; Bidet M; Borgel D; Brasil S; Cassiman D; Cechova A; Coman D; Corral J; Correia J; de la Morena-Barrio ME; de Lonlay P; Dos Reis V; Ferreira CR; Fiumara A; Francisco R; Freeze H; Funke S; Gardeitchik T; Gert M; Girad M; Giros M; Grünewald S; Hernández-Caselles T; Honzik T; Hutter M; Krasnewich D; Lam C; Lee J; Lefeber D; Marques-de-Silva D; Martinez AF; Moravej H; Õunap K; Pascoal C; Pascreau T; Patterson M; Quelhas D; Raymond K; Sarkhail P; Schiff M; Seroczyńska M; Serrano M; Seta N; Sykut-Cegielska J; Thiel C; Tort F; Vals MA; Videira P; Witters P; Zeevaert R; Morava E
J Inherit Metab Dis; 2019 Jan; 42(1):5-28. PubMed ID: 30740725
[TBL] [Abstract][Full Text] [Related]
26. Ophthalmic findings in an infant with phosphomannomutase deficiency.
Messenger WB; Yang P; Pennesi ME
Doc Ophthalmol; 2014 Apr; 128(2):149-53. PubMed ID: 24493206
[TBL] [Abstract][Full Text] [Related]
27. PMM2-CDG and sensorineural hearing loss.
Kasapkara ÇS; Barış Z; Kılıç M; Yüksel D; Keldermans L; Matthijs G; Jaeken J
J Inherit Metab Dis; 2017 Sep; 40(5):629-630. PubMed ID: 28762107
[No Abstract] [Full Text] [Related]
28. "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A; Bruneel A; Vermeersch P; Cholet S; Friedrich S; Eckenweiler M; Schumann A; Hengst S; Tuncel AT; Fenaille F; Thiel C; Rymen D
Proteomics Clin Appl; 2024 Mar; 18(2):e2300040. PubMed ID: 37876147
[TBL] [Abstract][Full Text] [Related]
29. Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich N; Kikul F; Zdrazilova L; Honzik T; Hecker A; Poschet G; Lüchtenborg C; Brügger B; Strahl S; Bürger F; Okun JG; Hansikova H; Thiel C
Mol Genet Metab; 2023 Jul; 139(3):107610. PubMed ID: 37245379
[TBL] [Abstract][Full Text] [Related]
30. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Yuste-Checa P; Gámez A; Brasil S; Desviat LR; Ugarte M; Pérez-Cerdá C; Pérez B
Hum Mutat; 2015 Sep; 36(9):851-60. PubMed ID: 26014514
[TBL] [Abstract][Full Text] [Related]
31. [Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
Sätilä H; Kuusela AL; Pietilä K; Niinikoski H; Keskinen P
Duodecim; 2016; 132(3):253-9. PubMed ID: 26951030
[TBL] [Abstract][Full Text] [Related]
32. Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.
Iyer S; Sam FS; DiPrimio N; Preston G; Verheijen J; Murthy K; Parton Z; Tsang H; Lao J; Morava E; Perlstein EO
Dis Model Mech; 2019 Nov; 12(11):. PubMed ID: 31636082
[TBL] [Abstract][Full Text] [Related]
33. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Westphal V; Kjaergaard S; Schollen E; Martens K; Grunewald S; Schwartz M; Matthijs G; Freeze HH
Hum Mol Genet; 2002 Mar; 11(5):599-604. PubMed ID: 11875054
[TBL] [Abstract][Full Text] [Related]
34. Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
Hong X; Edmondson AC; Strong A; Pomerantz D; Michl E; Berry G; He M
Mol Genet Metab; 2023 Nov; 140(3):107682. PubMed ID: 37597336
[TBL] [Abstract][Full Text] [Related]
35. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy K; Perez-Ortiz JM; Ligezka AN; Altassan R; Johnsen C; Schultz MJ; Patterson MC; Morava E
Genet Med; 2024 Feb; 26(2):101027. PubMed ID: 37955240
[TBL] [Abstract][Full Text] [Related]
36. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
Westphal V; Peterson S; Patterson M; Tournay A; Blumenthal A; Treacy EP; Freeze HH
Genet Med; 2001; 3(6):393-8. PubMed ID: 11715002
[TBL] [Abstract][Full Text] [Related]
37. Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
García-López R; de la Morena-Barrio ME; Alsina L; Pérez-Dueñas B; Jaeken J; Serrano M; Casado M; Hernández-Caselles T
PLoS One; 2016; 11(7):e0158863. PubMed ID: 27415628
[TBL] [Abstract][Full Text] [Related]
38. Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
Lao JP; DiPrimio N; Prangley M; Sam FS; Mast JD; Perlstein EO
G3 (Bethesda); 2019 Feb; 9(2):413-423. PubMed ID: 30530630
[TBL] [Abstract][Full Text] [Related]
39. Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Yuste-Checa P; Brasil S; Gámez A; Underhaug J; Desviat LR; Ugarte M; Pérez-Cerdá C; Martinez A; Pérez B
Hum Mutat; 2017 Feb; 38(2):160-168. PubMed ID: 27774737
[TBL] [Abstract][Full Text] [Related]
40. Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R; de Lonlay P; Foulquier F; Kornak U; Lefeber DJ; Morava E; Pérez B; Seta N; Thiel C; Van Schaftingen E; Matthijs G; Jaeken J
Eur J Med Genet; 2018 Nov; 61(11):643-663. PubMed ID: 29079546
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
