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Results: 1 to 20 of 161

1.

Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.

Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A.

Muscle Nerve. 2008 Apr;37(4):530-6.

PMID:
17994551
[PubMed - indexed for MEDLINE]
2.

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V.

Ann Neurol. 1998 Dec;44(6):867-72.

PMID:
9851430
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome.

Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ.

Muscle Nerve. 2004 Feb;29(2):323-8.

PMID:
14755501
[PubMed - indexed for MEDLINE]
5.

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.

Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I.

Ann Neurol. 1991 Nov;30(5):655-62.

PMID:
1763891
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.

PMID:
23034915
[PubMed - indexed for MEDLINE]
8.

Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease.

Wierzba-Bobrowicz T, Lewandowska E, Stepień T, Modzelewska J.

Folia Neuropathol. 2008;46(3):165-75.

PMID:
18825592
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

[Adult polyglucosan antibody disease. Case report with predominant involvement of the central and peripheral nervous system and branching enzyme defect in leukocytes].

Sindern E, Patzold T, Vorgerd M, Shin YS, Podskarbi T, Schröder JM, Malin JP.

Nervenarzt. 1999 Aug;70(8):745-9. German.

PMID:
10483576
[PubMed - indexed for MEDLINE]
11.

Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions.

Hajdu CH, Lefkowitch JH.

Semin Liver Dis. 2011 May;31(2):223-9. doi: 10.1055/s-0031-1276649. Epub 2011 May 2.

PMID:
21538287
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

Moses SW, Parvari R.

Curr Mol Med. 2002 Mar;2(2):177-88. Review.

PMID:
11949934
[PubMed - indexed for MEDLINE]
14.

Adult polyglucosan body disease: a case report of a manifesting heterozygote.

Ubogu EE, Hong ST, Akman HO, Dimauro S, Katirji B, Preston DC, Shapiro BE.

Muscle Nerve. 2005 Nov;32(5):675-81.

PMID:
16007674
[PubMed - indexed for MEDLINE]
15.

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

Akman HO, Sheiko T, Tay SK, Finegold MJ, Dimauro S, Craigen WJ.

Hum Mol Genet. 2011 Nov 15;20(22):4430-9. doi: 10.1093/hmg/ddr371. Epub 2011 Aug 19.

PMID:
21856731
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.

Hussain A, Armistead J, Gushulak L, Kruck C, Pind S, Triggs-Raine B, Natowicz MR.

Biochem Biophys Res Commun. 2012 Sep 21;426(2):286-8. doi: 10.1016/j.bbrc.2012.08.089. Epub 2012 Aug 25.

PMID:
22943850
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.

Roe CR, Bottiglieri T, Wallace M, Arning E, Martin A.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):246-52. doi: 10.1016/j.ymgme.2010.06.017. Epub 2010 Jul 6.

PMID:
20655781
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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