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.
6. Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. Westenfield K; Sarafoglou K; Speltz LC; Pierpont EI; Steyermark J; Nascene D; Bower M; Pierpont ME BMC Med Genet; 2018 Jun; 19(1):100. PubMed ID: 29907092 [TBL] [Abstract][Full Text] [Related]
10. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. Dörre K; Olczak M; Wada Y; Sosicka P; Grüneberg M; Reunert J; Kurlemann G; Fiedler B; Biskup S; Hörtnagel K; Rust S; Marquardt T J Inherit Metab Dis; 2015 Sep; 38(5):931-40. PubMed ID: 25778940 [TBL] [Abstract][Full Text] [Related]
11. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Radenkovic S; Bird MJ; Emmerzaal TL; Wong SY; Felgueira C; Stiers KM; Sabbagh L; Himmelreich N; Poschet G; Windmolders P; Verheijen J; Witters P; Altassan R; Honzik T; Eminoglu TF; James PM; Edmondson AC; Hertecant J; Kozicz T; Thiel C; Vermeersch P; Cassiman D; Beamer L; Morava E; Ghesquière B Am J Hum Genet; 2019 May; 104(5):835-846. PubMed ID: 30982613 [TBL] [Abstract][Full Text] [Related]
12. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. Kimizu T; Takahashi Y; Oboshi T; Horino A; Koike T; Yoshitomi S; Mori T; Yamaguchi T; Ikeda H; Okamoto N; Nakashima M; Saitsu H; Kato M; Matsumoto N; Imai K Brain Dev; 2017 Mar; 39(3):256-260. PubMed ID: 27743886 [TBL] [Abstract][Full Text] [Related]
13. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG). Martínez-Monseny AF; Bolasell M; Callejón-Póo L; Cuadras D; Freniche V; Itzep DC; Gassiot S; Arango P; Casas-Alba D; de la Morena E; Corral J; Montero R; Pérez-Cerdá C; Pérez B; Artuch R; Jaeken J; Serrano M; Ann Neurol; 2019 May; 85(5):740-751. PubMed ID: 30873657 [TBL] [Abstract][Full Text] [Related]
14. SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. Yates TM; Suri M; Desurkar A; Lesca G; Wallgren-Pettersson C; Hammer TB; Raghavan A; Poulat AL; Møller RS; Thuresson AC; Balasubramanian M Eur J Paediatr Neurol; 2018 Nov; 22(6):1095-1102. PubMed ID: 30194038 [TBL] [Abstract][Full Text] [Related]
15. Oral D-galactose supplementation in PGM1-CDG. Wong SY; Gadomski T; van Scherpenzeel M; Honzik T; Hansikova H; Holmefjord KSB; Mork M; Bowling F; Sykut-Cegielska J; Koch D; Hertecant J; Preston G; Jaeken J; Peeters N; Perez S; Nguyen DD; Crivelly K; Emmerzaal T; Gibson KM; Raymond K; Abu Bakar N; Foulquier F; Poschet G; Ackermann AM; He M; Lefeber DJ; Thiel C; Kozicz T; Morava E Genet Med; 2017 Nov; 19(11):1226-1235. PubMed ID: 28617415 [TBL] [Abstract][Full Text] [Related]
16. D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery. Aledo-Serrano Á; Valls-Carbó A; Fenger CD; Groeppel G; Hartlieb T; Pascual I; Herraez E; Cabal B; García-Morales I; Toledano R; Budke M; Beltran-Corbellini Á; Baldassari S; Coras R; Kobow K; Herrera DM; Del Barrio A; Dahl HA; Del Pino I; Baulac S; Blumcke I; Møller RS; Gil-Nagel A Neurotherapeutics; 2023 Sep; 20(5):1294-1304. PubMed ID: 37278968 [TBL] [Abstract][Full Text] [Related]
18. Coagulation abnormalities and vascular complications are common in PGM1-CDG. Radenkovic S; Bleukx S; Engelhardt N; Eklund E; Mercimek-Andrews S; Edmondson AC; Morava E Mol Genet Metab; 2024 Aug; 142(4):108530. PubMed ID: 38968673 [TBL] [Abstract][Full Text] [Related]
19. Identification of novel potential interaction partners of UDP-galactose (SLC35A2), UDP-N-acetylglucosamine (SLC35A3) and an orphan (SLC35A4) nucleotide sugar transporters. Wiktor M; Wiertelak W; Maszczak-Seneczko D; Balwierz PJ; Szulc B; Olczak M J Proteomics; 2021 Oct; 249():104321. PubMed ID: 34242836 [TBL] [Abstract][Full Text] [Related]
20. [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ]. Lang CH; Yang Y; Niu XY; Yang XL; Chen Y; Zhang YH Zhonghua Er Ke Za Zhi; 2020 Jul; 58(7):586-590. PubMed ID: 32605344 [No Abstract] [Full Text] [Related] [Next] [New Search]