BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 20655781)

  • 1. 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]  

  • 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. PubMed ID: 9851430
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.
    Kakhlon O; Glickstein H; Feinstein N; Liu Y; Baba O; Terashima T; Akman HO; Dimauro S; Lossos A
    J Neurochem; 2013 Oct; 127(1):101-13. PubMed ID: 23607684
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
    Schiffmann R; Wallace ME; Rinaldi D; Ledoux I; Luton MP; Coleman S; Akman HO; Martin K; Hogrel JY; Blankenship D; Turner J; Mochel F
    J Inherit Metab Dis; 2018 Sep; 41(5):877-883. PubMed ID: 29110179
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Guaiacol as a drug candidate for treating adult polyglucosan body disease.
    Kakhlon O; Ferreira I; Solmesky LJ; Khazanov N; Lossos A; Alvarez R; Yetil D; Pampou S; Weil M; Senderowitz H; Escriba P; Yue WW; Akman HO
    JCI Insight; 2018 Sep; 3(17):. PubMed ID: 30185673
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Fatal cardiomyopathy in adult in polyglucosan body disease].
    Postler E; Sindern E; Vorgerd M; Schmitz I; Malin JP; Müller KM
    Pathologe; 2002 May; 23(3):229-34. PubMed ID: 12089790
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
    Chown EE; Wang P; Zhao X; Crowder JJ; Strober JW; Sullivan MA; Xue Y; Bennett CS; Perri AM; Evers BM; Roach PJ; Depaoli-Roach AA; Akman HO; Pederson BA; Minassian BA
    Ann Clin Transl Neurol; 2020 Nov; 7(11):2186-2198. PubMed ID: 33034425
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 23034915
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Blood determinations of S-adenosylmethionine, S-adenosylhomocysteine, and homocysteine: correlations with diet.
    Poirier LA; Wise CK; Delongchamp RR; Sinha R
    Cancer Epidemiol Biomarkers Prev; 2001 Jun; 10(6):649-55. PubMed ID: 11401915
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Methylation metabolism in sepsis and systemic inflammatory response syndrome.
    Semmler A; Prost JC; Smulders Y; Smith D; Blom H; Bigler L; Linnebank M
    Scand J Clin Lab Invest; 2013 Aug; 73(5):368-72. PubMed ID: 23566119
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Relationship between S-adenosylmethionine, S-adenosylhomocysteine, asymmetric dimethylarginine, and endothelial function in healthy human subjects during experimental hyper- and hypohomocysteinemia.
    Doshi S; McDowell I; Goodfellow J; Stabler S; Boger R; Allen R; Newcombe R; Lewis M; Moat S
    Metabolism; 2005 Mar; 54(3):351-60. PubMed ID: 15736113
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.
    Kakhlon O; Vaknin H; Mishra K; D'Souza J; Marisat M; Sprecher U; Wald-Altman S; Dukhovny A; Raviv Y; Da'adoosh B; Engel H; Benhamron S; Nitzan K; Sweetat S; Permyakova A; Mordechai A; Akman HO; Rosenmann H; Lossos A; Tam J; Minassian BA; Weil M
    EMBO Mol Med; 2021 Oct; 13(10):e14554. PubMed ID: 34486811
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.