BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

109 related articles for article (PubMed ID: 16319324)

  • 1. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives.
    van der Ploeg AT
    Eur Respir J; 2005 Dec; 26(6):984-5. PubMed ID: 16319324
    [No Abstract]   [Full Text] [Related]  

  • 2. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
    Raben N; Fukuda T; Gilbert AL; de Jong D; Thurberg BL; Mattaliano RJ; Meikle P; Hopwood JJ; Nagashima K; Nagaraju K; Plotz PH
    Mol Ther; 2005 Jan; 11(1):48-56. PubMed ID: 15585405
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Enzyme replacement therapy for infantile-onset pompe disease: curse or cure?
    Willems J; Petros A; Brierley J
    Neurology; 2008 Jul; 71(5):380-1. PubMed ID: 18663187
    [No Abstract]   [Full Text] [Related]  

  • 4. Comparative investigation of alpha-glucosidase activity in leucocytes and skeletal muscle of patients with Morbus Pompe.
    Didt L; Winkler M; Bührdel P; Bormann M; Böhme HJ; Hofmann E
    Z Med Lab Diagn; 1988; 29(1):7-11. PubMed ID: 3129881
    [No Abstract]   [Full Text] [Related]  

  • 5. [Two autopsy cases of adult-type acid maltase deficiency with vacuolation of cerebral arterial walls].
    Matsuoka Y; Hirayama M; Senda Y; Matsui T
    Rinsho Shinkeigaku; 1985 Jan; 25(1):39-45. PubMed ID: 3922655
    [No Abstract]   [Full Text] [Related]  

  • 6. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
    Verloes A; Massin M; Lombet J; Grattagliano B; Soyeur D; Rigo J; Koulischer L; Van Hoof F
    Am J Med Genet; 1997 Oct; 72(2):135-42. PubMed ID: 9382133
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
    van der Beek NA; Hagemans ML; van der Ploeg AT; Reuser AJ; van Doorn PA
    Acta Neurol Belg; 2006 Jun; 106(2):82-6. PubMed ID: 16898258
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM; Pongratz DE; Podskarbi T; Shin YS; Schoser BG
    Neurology; 2005 Jan; 64(2):368-70. PubMed ID: 15668445
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Acid maltase deficiency in adolescence: report of an unusual case.
    Olguntürk R; Bilgiç A; Cağlar M; Sinangil F
    Turk J Pediatr; 1982; 24(2):115-9. PubMed ID: 6214067
    [No Abstract]   [Full Text] [Related]  

  • 10. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
    Kikuchi T; Yang HW; Pennybacker M; Ichihara N; Mizutani M; Van Hove JL; Chen YT
    J Clin Invest; 1998 Feb; 101(4):827-33. PubMed ID: 9466978
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
    Kroos M; Pomponio RJ; van Vliet L; Palmer RE; Phipps M; Van der Helm R; Halley D; Reuser A;
    Hum Mutat; 2008 Jun; 29(6):E13-26. PubMed ID: 18425781
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Childhood acid maltase deficiency. A case report].
    Higashi Y; Shirabe T; Yasuda T; Inoue S; Sawayama T
    Rinsho Shinkeigaku; 1988 Jan; 28(1):83-91. PubMed ID: 3133150
    [No Abstract]   [Full Text] [Related]  

  • 13. Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.
    Whitaker CH; Felice KJ; Natowicz M
    Muscle Nerve; 2004 Mar; 29(3):440-2. PubMed ID: 14981745
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
    Pauly DF; Johns DC; Matelis LA; Lawrence JH; Byrne BJ; Kessler PD
    Gene Ther; 1998 Apr; 5(4):473-80. PubMed ID: 9614571
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
    Sun B; Zhang H; Franco LM; Young SP; Schneider A; Bird A; Amalfitano A; Chen YT; Koeberl DD
    Mol Ther; 2005 Jan; 11(1):57-65. PubMed ID: 15585406
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
    Hesselink RP; Gorselink M; Schaart G; Wagenmakers AJ; Kamphoven J; Reuser AJ; Van Der Vusse GJ; Drost MR
    Muscle Nerve; 2002 Jun; 25(6):873-83. PubMed ID: 12115977
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
    Xu F; Ding E; Migone F; Serra D; Schneider A; Chen YT; Amalfitano A
    J Gene Med; 2005 Feb; 7(2):171-8. PubMed ID: 15515143
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.
    Katzin LW; Amato AA
    J Clin Neuromuscul Dis; 2008 Jun; 9(4):421-31. PubMed ID: 18525427
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].
    Castro-Gago M; Eirís-Puñal J; Rodríguez-Núñez A; Pintos-Martínez E; Benlloch-Marín T; Barros-Angueira F
    Rev Neurol; 1999 Jul 1-15; 29(1):46-9. PubMed ID: 10528311
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-1986. A 29-year-old woman with slowly progressive proximal-muscle weakness.
    N Engl J Med; 1986 Sep; 315(11):694-701. PubMed ID: 3092049
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.