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Items: 1 to 20 of 27

1.

Update on polyglucosan storage diseases.

Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C.

Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Review.

PMID:
31363843
2.

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM.

Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248.

PMID:
30303820
3.

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV.

Yu W, Brundler MA, Wright JR Jr.

Pediatr Dev Pathol. 2018 Jul-Aug;21(4):423-427. doi: 10.1177/1093526617707852. Epub 2017 May 12.

PMID:
28497716
4.

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Yi H, Zhang Q, Brooks ED, Yang C, Thurberg BL, Kishnani PS, Sun B.

Hum Gene Ther. 2017 Mar;28(3):286-294. doi: 10.1089/hum.2016.099. Epub 2016 Nov 10.

PMID:
27832700
5.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB.

Neuromuscul Disord. 2016 Oct;26(10):681-687. doi: 10.1016/j.nmd.2016.07.005. Epub 2016 Jul 25.

PMID:
27546458
6.

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV).

Schänzer A, Faas D, Rust S, Podskarbi T, van Kuilenburg AB, Scarpa M, Kunze A, Marquardt T, Hahn A.

Klin Padiatr. 2016 Sep;228(5):277-9. doi: 10.1055/s-0042-109399. Epub 2016 Jul 21. No abstract available.

PMID:
27442143
7.

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R.

J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. Review.

PMID:
27393412
8.

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. doi: 10.1016/j.humpath.2016.03.021. Epub 2016 Apr 20.

PMID:
27107456
9.

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 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

10.

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. doi: 10.1097/PGP.0000000000000214.

PMID:
26166723
11.

Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.

Kakkar A, Sharma MC, Nambirajan A, Sarkar C, Suri V, Gulati S.

Ultrastruct Pathol. 2015;39(4):293-7. doi: 10.3109/01913123.2015.1014612. Epub 2015 Apr 13.

PMID:
25867930
12.
13.

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 Nov/Dec;19(6):512-515. doi: 10.2350/14-09-1557-CR.1. Epub 2014 Dec 9.

PMID:
25489661
14.

Branching enzyme deficiency: expanding the clinical spectrum.

Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S.

JAMA Neurol. 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888.

15.

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

Tümer L, Kasapkara ÇS, Biberoğlu G, Ezgü F, Hasanoğlu A.

J Pediatr Endocrinol Metab. 2013;26(11-12):1149-52. doi: 10.1515/jpem-2013-0066.

PMID:
23813353
16.

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A.

J Neurochem. 2013 Oct;127(1):101-13. doi: 10.1111/jnc.12277. Epub 2013 May 9.

17.

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.

Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.

PMID:
23218673
18.

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.

Escobar LF, Wagner S, Tucker M, Wareham J.

J Perinatol. 2012 Oct;32(10):810-3. doi: 10.1038/jp.2011.178. Review.

PMID:
23014386
19.

Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.

Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ.

Clin Chem. 2012 Jul;58(7):1139-47. doi: 10.1373/clinchem.2011.178319. Epub 2012 May 23.

20.

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. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Review.

PMID:
22305237

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