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Items: 1 to 20 of 281

1.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG.

Mol Genet Metab. 2017 Aug 25. pii: S1096-7192(17)30407-9. doi: 10.1016/j.ymgme.2017.08.007. [Epub ahead of print]

PMID:
28882528
2.

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. 2017 Jan 1:1093526617707852. doi: 10.1177/1093526617707852. [Epub ahead of print]

PMID:
28497716
3.

Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient.

Lee K, Ernst T, Løhaugen G, Zhang X, Chang L.

Ann Clin Transl Neurol. 2017 Feb 23;4(3):217-222. doi: 10.1002/acn3.394. eCollection 2017 Mar.

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.

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Yi H, Gao F, Austin S, Kishnani PS, Sun B.

Mol Genet Metab Rep. 2016 Oct 4;9:31-33. eCollection 2016 Dec.

6.

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

Glasser CL, Picoraro JA, Jain P, Kinberg S, Rustia E, Gross Margolis K, Anyane-Yeboa K, Iglesias AD, Green NS.

J Pediatr Hematol Oncol. 2016 Oct;38(7):e243-7. doi: 10.1097/MPH.0000000000000660.

PMID:
27571123
7.

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
8.

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
9.

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

Yi H, Zhang Q, Yang C, Kishnani PS, Sun B.

JIMD Rep. 2016;30:89-94. Epub 2016 Jun 26.

10.

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS.

JIMD Rep. 2017;31:79-83. doi: 10.1007/8904_2016_563. Epub 2016 May 4.

11.

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
12.

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

Pini J, Rouleau M, Desnuelle C, Sacconi S, Bendahhou S.

Stem Cells Dev. 2016 Jan 15;25(2):151-9. doi: 10.1089/scd.2015.0258. Epub 2015 Dec 30.

PMID:
26573604
13.

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 1;24(23):6801-10. doi: 10.1093/hmg/ddv385. Epub 2015 Sep 18.

14.

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.

15.

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
16.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S.

Prenat Diagn. 2015 Nov;35(11):1073-8. doi: 10.1002/pd.4648. Epub 2015 Aug 3.

PMID:
26147564
17.

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H, Tsitsikov E, Pai SY, Abel L, Al-Herz W, Casanova JL, Israel A, Notarangelo LD.

J Exp Med. 2015 Jun 1;212(6):939-51. doi: 10.1084/jem.20141130. Epub 2015 May 25.

18.

Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.

Camelier M, De Mari J, Burin M, Civallero G, Giugliani R.

Clin Chim Acta. 2015 Jun 15;446:218-20. doi: 10.1016/j.cca.2015.04.034. Epub 2015 May 2.

PMID:
25944767
19.

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
20.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.

Preisler N, Laforêt P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J.

Neurology. 2015 Apr 28;84(17):1767-71. doi: 10.1212/WNL.0000000000001518. Epub 2015 Apr 1.

PMID:
25832663

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