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Items: 1 to 20 of 114

1.

A mild juvenile variant of type IV glycogenosis.

Reusche E, Aksu F, Goebel HH, Shin YS, Yokota T, Reichmann H.

Brain Dev. 1992 Jan;14(1):36-43.

PMID:
1375445
2.

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Schröder JM, May R, Shin YS, Sigmund M, Nase-Hüppmeier S.

Acta Neuropathol. 1993;85(4):419-30.

PMID:
7683169
3.

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.

Greene HL, Brown BI, McClenathan DT, Agostini RM Jr, Taylor SR.

Hepatology. 1988 Mar-Apr;8(2):302-6.

PMID:
3162725
4.

Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage.

Herrick MK, Twiss JL, Vladutiu GD, Glasscock GF, Horoupian DS.

J Neuropathol Exp Neurol. 1994 May;53(3):239-46.

PMID:
8176407
5.

Juvenile polysaccharidosis with cardioskeletal myopathy.

Greene GM, Weldon DC, Ferrans VJ, Cheatham JP, McComb RD, Brown BI, Gumbiner CH, Vanderhoof JA, Itkin PG, McManus BM.

Arch Pathol Lab Med. 1987 Oct;111(10):977-82.

PMID:
2957974
6.
7.

A mild adult myopathic variant of type IV glycogenosis.

Bornemann A, Besser R, Shin YS, Goebel HH.

Neuromuscul Disord. 1996 Mar;6(2):95-9.

PMID:
8664568
8.

Immunological homogeneity of Lafora body, corpora amylacea, basophilic degeneration in heart, and intracytoplasmic inclusions of liver and heart in type IV glycogenosis.

Yokota T, Ishihara T, Kawano H, Yamashita Y, Takahashi M, Uchino F, Kamei T, Kusunose Y, Yamada M, Matsumoto N.

Acta Pathol Jpn. 1987 Jun;37(6):941-6.

PMID:
2442960
9.

Surprises of genetic engineering: a possible model of polyglucosan body disease.

Raben N, Danon M, Lu N, Lee E, Shliselfeld L, Skurat AV, Roach PJ, Lawrence JC Jr, Musumeci O, Shanske S, DiMauro S, Plotz P.

Neurology. 2001 Jun 26;56(12):1739-45.

PMID:
11425943
10.

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
11.

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
12.

[Polysaccharide amylopectin-type storage myopathy].

Calore EE, Pellissier JF, Figarella-Branger D, de Barsy T, Pouget J, Serratrice G.

Rev Neurol (Paris). 1992;148(11):696-703. Review. French.

PMID:
1303560
13.
14.

Comparative study of the intracytoplasmic inclusions in Lafora disease and type IV glycogenosis by electron microscopy.

Ishihara T, Yokota T, Yamashita Y, Takahashi M, Kawano H, Uchino F, Kamei T, Matsumoto N, Kusunose Y, Yamada M.

Acta Pathol Jpn. 1987 Oct;37(10):1591-601.

PMID:
2829501
15.

[Congenital variant of type IV glycogenosis. Anatomoclinical report of a case].

Uro-Coste E, Lelong-Tissier MC, Maire I, Ceuterick C, Chausseray F, Delisle MB.

Ann Pathol. 1996 Dec;16(6):449-52. French.

PMID:
9090936
16.

A juvenile variant of glycogenosis IV (Andersen disease).

Guerra AS, van Diggelen OP, Carneiro F, Tsou RM, Simoes S, Santos NT.

Eur J Pediatr. 1986 Aug;145(3):179-81.

PMID:
3464425
17.

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

Cox PM, Brueton LA, Murphy KW, Worthington VC, Bjelogrlic P, Lazda EJ, Sabire NJ, Sewry CA.

Am J Med Genet. 1999 Sep 10;86(2):187-93.

PMID:
10449659
18.

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
19.

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
20.

Type IV glycogenosis - a study of two cases.

Ishihara T, Uchino F, Adachi H, Takahashi M, Watanabe S, Tsunetoshi S, Fuji T, Ikee Y.

Acta Pathol Jpn. 1975 Sep;25(5):613-33.

PMID:
1060362

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