188 related articles for article (PubMed ID: 9851430)
1. 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. PubMed ID: 9851430
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17994551
[TBL] [Abstract][Full Text] [Related]
3. 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; 426(2):286-8. PubMed ID: 22943850
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 10762170
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 14755501
[TBL] [Abstract][Full Text] [Related]
6. Placental involvement in glycogen storage disease type IV.
Konstantinidou AE; Anninos H; Dertinger S; Nonni A; Petersen M; Karadimas C; Havaki S; Marinos E; Akman HO; DiMauro S; Patsouris E
Placenta; 2008 Apr; 29(4):378-81. PubMed ID: 18289670
[TBL] [Abstract][Full Text] [Related]
7. 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; 101(2-3):246-52. PubMed ID: 20655781
[TBL] [Abstract][Full Text] [Related]
8. Glycogen branching enzyme deficiency in adult polyglucosan body disease.
Bruno C; Servidei S; Shanske S; Karpati G; Carpenter S; McKee D; Barohn RJ; Hirano M; Rifai Z; DiMauro S
Ann Neurol; 1993 Jan; 33(1):88-93. PubMed ID: 8494336
[TBL] [Abstract][Full Text] [Related]
9. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y; Kishnani P; Wu JY; Chen YT
J Clin Invest; 1996 Feb; 97(4):941-8. PubMed ID: 8613547
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 1763891
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 16007674
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 16874838
[TBL] [Abstract][Full Text] [Related]
13. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 22305237
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21538287
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18661138
[TBL] [Abstract][Full Text] [Related]
17. 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; 24(23):6801-10. PubMed ID: 26385640
[TBL] [Abstract][Full Text] [Related]
18. 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; 361(2):445-50. PubMed ID: 17662246
[TBL] [Abstract][Full Text] [Related]
19. Acute but transient neurological deterioration revealing adult polyglucosan body disease.
Billot S; Hervé D; Akman HO; Froissart R; Baussan C; Claeys KG; Piraud M; Sedel F; Mochel F; Laforêt P
J Neurol Sci; 2013 Jan; 324(1-2):179-82. PubMed ID: 23146612
[TBL] [Abstract][Full Text] [Related]
20. 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; 20(3):455-65. PubMed ID: 21075835
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
