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Items: 12

1.

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S83-90. doi: 10.1007/s10545-009-9026-5.

PMID:
20058079
2.
3.

Molecular characterization of glycogen storage disease type III.

Shen JJ, Chen YT.

Curr Mol Med. 2002 Mar;2(2):167-75. Review.

PMID:
11949933
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. doi: 10.1016/j.humpath.2011.10.001. Review.

PMID:
22305237
5.

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
6.

[Glycogen branching enzyme deficiency (Andersen disease)].

Tsujino S.

Ryoikibetsu Shokogun Shirizu. 2001;(36):23-4. Review. Japanese. No abstract available.

PMID:
11596376
7.

Laboratory diagnosis of the neuromuscular glycogen storage diseases.

Farmer PM.

Ann Clin Lab Sci. 1982 Nov-Dec;12(6):431-8. Review.

PMID:
6817693
8.

Liver transplantation for glycogen storage disease types I, III, and IV.

Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT.

Eur J Pediatr. 1999 Dec;158 Suppl 2:S43-8. Review.

9.

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.

Eur J Pediatr. 2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Review.

PMID:
24326380
10.

[Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family].

de La Blanchardière A, Vayssier C, Duboc D, Jacquemin IE, Eymard B, Fardeau M, Maire I, Dreyfus G, Guérin F.

Presse Med. 1994 Jun 25;23(24):1124-7. Review. French.

PMID:
7971833
11.

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.

Beamer LJ.

J Inherit Metab Dis. 2015 Mar;38(2):243-56. doi: 10.1007/s10545-014-9757-9. Review.

PMID:
25168163
12.

Congenital form of glycogen storage disease type IV: a case report and a review of the literature.

Maruyama K, Suzuki T, Koizumi T, Sugie H, Fukuda T, Ito M, Hirato J.

Pediatr Int. 2004 Aug;46(4):474-7. Review. No abstract available.

PMID:
15310318
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