These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

267 related articles for article (PubMed ID: 16874838)

  • 1. 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]  

  • 2. 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]  

  • 3. 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. PubMed ID: 15520786
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 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. PubMed ID: 22305237
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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. PubMed ID: 23014386
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 18230843
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 20833045
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 21917543
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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. PubMed ID: 19813197
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular prenatal diagnosis of glycogen storage disease type Ia.
    Qu Y; Abdenur JE; Eng CM; Desnick RJ
    Prenat Diagn; 1996 Apr; 16(4):333-6. PubMed ID: 8734807
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.
    Fyfe JC; Kurzhals RL; Hawkins MG; Wang P; Yuhki N; Giger U; Van Winkle TJ; Haskins ME; Patterson DF; Henthorn PS
    Mol Genet Metab; 2007 Apr; 90(4):383-92. PubMed ID: 17257876
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 11949934
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 61(3):392-4. PubMed ID: 12913206
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.
    Brown BI; Brown DH
    Am J Hum Genet; 1989 Mar; 44(3):378-81. PubMed ID: 2521770
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.