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Items: 1 to 20 of 279

1.

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. Epub 2007 Jul 24.

PMID:
17662246
2.

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
3.

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. Epub 2008 Jan 29.

PMID:
18230843
4.

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. Epub 2009 Apr 8.

PMID:
19357989
5.

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
6.

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. Epub 2010 Sep 15.

PMID:
20833045
7.

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
8.
9.

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.

Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, Pellissier JF.

Muscle Nerve. 2010 Feb;41(2):269-71. doi: 10.1002/mus.21499.

PMID:
19813197
10.

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
11.

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. Epub 2011 Sep 13.

PMID:
21917543
12.

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
13.

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. Epub 2010 Nov 12.

PMID:
21075835
14.

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
15.

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. Epub 2008 Jul 26.

PMID:
18661138
16.

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.

Bruno C, DiRocco M, Lamba LD, Bado M, Marino C, Tsujino S, Shanske S, Stella G, Minetti C, van Diggelen OP, DiMauro S.

Neuromuscul Disord. 1999 Oct;9(6-7):403-7.

PMID:
10545044
17.

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.

J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.

PMID:
17705025
18.

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M.

Ann Neurol. 2000 Apr;47(4):536-40.

PMID:
10762170
19.

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

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