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.
4. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Magoulas PL; El-Hattab AW; Roy A; Bali DS; Finegold MJ; Craigen WJ Hum Pathol; 2012 Jun; 43(6):943-51. PubMed ID: 22305237 [TBL] [Abstract][Full Text] [Related]
5. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. Raju GP; Li HC; Bali DS; Chen YT; Urion DK; Lidov HG; Kang PB J Child Neurol; 2008 Mar; 23(3):349-52. PubMed ID: 18230843 [TBL] [Abstract][Full Text] [Related]
6. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. Janecke AR; Dertinger S; Ketelsen UP; Bereuter L; Simma B; Müller T; Vogel W; Offner FA J Pediatr; 2004 Nov; 145(5):705-9. PubMed ID: 15520786 [TBL] [Abstract][Full Text] [Related]
7. A novel mouse model that recapitulates adult-onset glycogenosis type 4. Orhan Akman H; Emmanuele V; Kurt YG; Kurt B; Sheiko T; DiMauro S; Craigen WJ Hum Mol Genet; 2015 Dec; 24(23):6801-10. PubMed ID: 26385640 [TBL] [Abstract][Full Text] [Related]
13. A novel GBE1 gene variant in a child with glycogen storage disease type IV. Said SM; Murphree MI; Mounajjed T; El-Youssef M; Zhang L Hum Pathol; 2016 Aug; 54():152-6. PubMed ID: 27107456 [TBL] [Abstract][Full Text] [Related]
14. Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. Lamperti C; Salani S; Lucchiari S; Bordoni A; Ripolone M; Fagiolari G; Fruguglietti ME; Crugnola V; Colombo C; Cappellini A; Prelle A; Bresolin N; Comi GP; Moggio M J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S161-8. PubMed ID: 19357989 [TBL] [Abstract][Full Text] [Related]
15. Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. Froese DS; Michaeli A; McCorvie TJ; Krojer T; Sasi M; Melaev E; Goldblum A; Zatsepin M; Lossos A; Álvarez R; Escribá PV; Minassian BA; von Delft F; Kakhlon O; Yue WW Hum Mol Genet; 2015 Oct; 24(20):5667-76. PubMed ID: 26199317 [TBL] [Abstract][Full Text] [Related]
16. Null mutations and lethal congenital form of glycogen storage disease type IV. Assereto S; van Diggelen OP; Diogo L; Morava E; Cassandrini D; Carreira I; de Boode WP; Dilling J; Garcia P; Henriques M; Rebelo O; ter Laak H; Minetti C; Bruno C Biochem Biophys Res Commun; 2007 Sep; 361(2):445-50. PubMed ID: 17662246 [TBL] [Abstract][Full Text] [Related]
17. Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. Bendroth-Asmussen L; Aksglaede L; Gernow AB; Lund AM Int J Gynecol Pathol; 2016 Jan; 35(1):38-40. PubMed ID: 26166723 [TBL] [Abstract][Full Text] [Related]
18. Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. Dainese L; Adam N; Boudjemaa S; Hadid K; Rosenblatt J; Jouannic JM; Heron D; Froissart R; Coulomb A Pediatr Dev Pathol; 2016; 19(6):512-515. PubMed ID: 25489661 [TBL] [Abstract][Full Text] [Related]