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9. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Würde AE; Reunert J; Rust S; Hertzberg C; Haverkämper S; Nürnberg G; Nürnberg P; Lehle L; Rossi R; Marquardt T Mol Genet Metab; 2012 Apr; 105(4):634-41. PubMed ID: 22304930 [TBL] [Abstract][Full Text] [Related]
10. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Helander A; Stödberg T; Jaeken J; Matthijs G; Eriksson M; Eggertsen G Mol Genet Metab; 2013 Nov; 110(3):342-4. PubMed ID: 23890587 [TBL] [Abstract][Full Text] [Related]
11. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681 [TBL] [Abstract][Full Text] [Related]
12. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. Rimella-Le-Huu A; Henry H; Kern I; Hanquinet S; Roulet-Perez E; Newman CJ; Superti-Furga A; Bonafé L; Ballhausen D J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S381-6. PubMed ID: 18679822 [TBL] [Abstract][Full Text] [Related]
13. Congenital disorders of glycosylation: The Saudi experience. Alsubhi S; Alhashem A; Faqeih E; Alfadhel M; Alfaifi A; Altuwaijri W; Alsahli S; Aldhalaan H; Alkuraya FS; Hundallah K; Mahmoud A; Alasmari A; Mutairi FA; Abduraouf H; AlRasheed L; Alshahwan S; Tabarki B Am J Med Genet A; 2017 Oct; 173(10):2614-2621. PubMed ID: 28742265 [TBL] [Abstract][Full Text] [Related]
14. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. Kane MS; Davids M; Adams C; Wolfe LA; Cheung HW; Gropman A; Huang Y; ; Ng BG; Freeze HH; Adams DR; Gahl WA; Boerkoel CF Am J Hum Genet; 2016 Feb; 98(2):339-46. PubMed ID: 26805780 [TBL] [Abstract][Full Text] [Related]
15. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Anzai R; Tsuji M; Yamashita S; Wada Y; Okamoto N; Saitsu H; Matsumoto N; Goto T Brain Dev; 2021 Mar; 43(3):402-410. PubMed ID: 33261925 [TBL] [Abstract][Full Text] [Related]
16. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. Mandel H; Cohen Kfir N; Fedida A; Shuster Biton E; Odeh M; Kalfon L; Ben-Harouch S; Fleischer Sheffer V; Hoffman Y; Goldberg Y; Dinwiddie A; Dumin E; Eran A; Apel-Sarid L; Tiosano D; Falik-Zaccai TC Clin Genet; 2020 Oct; 98(4):402-407. PubMed ID: 32683677 [TBL] [Abstract][Full Text] [Related]
17. The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood. Fernlund E; Andersson O; Ellegård R; Årstrand HK; Green H; Olsson H; Gunnarsson C Forensic Sci Int Genet; 2019 Nov; 43():102111. PubMed ID: 31563034 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Congenital disorders of glycosylation with emphasis on cerebellar involvement. Barone R; Fiumara A; Jaeken J Semin Neurol; 2014 Jul; 34(3):357-66. PubMed ID: 25192513 [TBL] [Abstract][Full Text] [Related]
20. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. de Lonlay P; Seta N; Barrot S; Chabrol B; Drouin V; Gabriel BM; Journel H; Kretz M; Laurent J; Le Merrer M; Leroy A; Pedespan D; Sarda P; Villeneuve N; Schmitz J; van Schaftingen E; Matthijs G; Jaeken J; Korner C; Munnich A; Saudubray JM; Cormier-Daire V J Med Genet; 2001 Jan; 38(1):14-9. PubMed ID: 11134235 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]