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Items: 1 to 20 of 175

1.

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. doi: 10.1007/s10545-009-1134-8.

PMID:
19357989
2.

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 21;361(2):445-50.

PMID:
17662246
3.

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.

Taratuto AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S.

Neuromuscul Disord. 2010 Dec;20(12):783-90. doi: 10.1016/j.nmd.2010.07.275.

PMID:
20833045
4.

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
5.

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F.

J Inherit Metab Dis. 2004;27(5):609-19.

PMID:
15669676
6.

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.

Eminoglu TF, Tumer L, Okur I, Olgunturk R, Hasanoglu A, Gonul II, Dalgic B.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S255-9. doi: 10.1007/s10545-008-0819-8.

PMID:
18392749
7.

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. doi: 10.1177/0883073807309248.

PMID:
18230843
8.

A neonatal form of glycogen storage disease type IV.

Nambu M, Kawabe K, Fukuda T, Okuno TB, Ohta S, Nonaka I, Sugie H, Nishino I.

Neurology. 2003 Aug 12;61(3):392-4.

PMID:
12913206
9.

Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.

Ward TL, Valberg SJ, Adelson DL, Abbey CA, Binns MM, Mickelson JR.

Mamm Genome. 2004 Jul;15(7):570-7.

PMID:
15366377
10.
11.

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S.

Neuromuscul Disord. 2004 Apr;14(4):253-60.

PMID:
15019703
12.

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Lee YC, Chang CJ, Bali D, Chen YT, Yan YT.

Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492.

13.

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
14.

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.

PMID:
15520786
15.

Prenatal diagnosis of glycogen storage disease type IV.

Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB.

Prenat Diagn. 2006 Oct;26(10):951-5.

PMID:
16874838
16.

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.

Nolte KW, Janecke AR, Vorgerd M, Weis J, Schröder JM.

Acta Neuropathol. 2008 Nov;116(5):491-506. doi: 10.1007/s00401-008-0417-8.

PMID:
18661138
17.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C.

Neurology. 2004 Sep 28;63(6):1053-8.

PMID:
15452297
18.

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC.

J Child Neurol. 2012 Feb;27(2):204-8. doi: 10.1177/0883073811415107.

PMID:
21917543
19.

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
20.

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.

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