725 related articles for article (PubMed ID: 9382133)
1. 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]
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. [Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase].
Bru P; Pellissier JF; Gatau-Pelanchon J; Faugère G; de Barsy T; Levy S; Gérard R
Arch Mal Coeur Vaiss; 1988 Jan; 81(1):109-14. PubMed ID: 3130016
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
Umapathysivam K; Hopwood JJ; Meikle PJ
Clin Chim Acta; 2005 Nov; 361(1-2):191-8. PubMed ID: 15993875
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. [A retrospective study of six patients with late-onset Pompe disease].
Saux A; Laforet P; Pagès AM; Figarella-Branger D; Pellissier JF; Pagès M; Labauge P
Rev Neurol (Paris); 2008 Apr; 164(4):336-42. PubMed ID: 18439925
[TBL] [Abstract][Full Text] [Related]
9. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
Okumiya T; Keulemans JL; Kroos MA; Van der Beek NM; Boer MA; Takeuchi H; Van Diggelen OP; Reuser AJ
Mol Genet Metab; 2006 May; 88(1):22-8. PubMed ID: 16359900
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers.
Griffin JL
Virchows Arch B Cell Pathol Incl Mol Pathol; 1984; 45(1):37-50. PubMed ID: 6199886
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. 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]
14. Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency.
Matsuishi T; Terasawa K; Yoshida I; Yano E; Yamashita F; Hidaka T; Ishihara O; Yoshino M; Nonaka I; Kurokawa T; Nakamura Y
Neuropediatrics; 1982 Nov; 13(4):173-6. PubMed ID: 6818487
[TBL] [Abstract][Full Text] [Related]
15. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
[TBL] [Abstract][Full Text] [Related]
16. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
Nicolino M; Puech JP; Letourneur F; Fardeau M; Kahn A; Poenaru L
Biochem Biophys Res Commun; 1997 Jun; 235(1):138-41. PubMed ID: 9196050
[TBL] [Abstract][Full Text] [Related]
17. Infantile acid maltase deficiency. III. Ultrastructure of metachromatic material and glycogen in muscle fibers.
Griffin JL
Virchows Arch B Cell Pathol Incl Mol Pathol; 1984; 45(1):51-61. PubMed ID: 6199887
[TBL] [Abstract][Full Text] [Related]
18. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Hermans MM; Kroos MA; Smeitink JA; van der Ploeg AT; Kleijer WJ; Reuser AJ
Hum Mutat; 1998; 11(3):209-15. PubMed ID: 9521422
[TBL] [Abstract][Full Text] [Related]
19. Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.
Teng YT; Su WJ; Hou JW; Huang SF
Chang Gung Med J; 2004 May; 27(5):379-84. PubMed ID: 15366815
[TBL] [Abstract][Full Text] [Related]
20. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
van der Beek NA; Soliman OI; van Capelle CI; Geleijnse ML; Vletter WB; Kroos MA; Reuser AJ; Frohn-Mulder IM; van Doorn PA; van der Ploeg AT
J Neurol Sci; 2008 Dec; 275(1-2):46-50. PubMed ID: 18757064
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]