BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 8249669)

  • 1. Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II.
    di Fiore MT; Manfredi R; Marri L; Zucchini A; Azzaroli L; Manfredi G
    Acta Neurol (Napoli); 1993 Aug; 15(4):258-67. PubMed ID: 8249669
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late-onset acid maltase deficiency in a Chinese girl.
    Wong KS; Lai C; Ng HK
    Clin Exp Neurol; 1991; 28():210-8. PubMed ID: 1821829
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].
    Merkli H; Pál E; Nagy F; Horváth R; Várdi VK; Komoly S; Illés Z
    Orv Hetil; 2006 Jul; 147(30):1421-4. PubMed ID: 16977780
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. 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]  

  • 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. 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]  

  • 8. [Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].
    Colomer J; Roig M; Campistol J; Rullan G; Fernández-Alvarez E
    An Esp Pediatr; 1984 Sep; 21(3):250-9. PubMed ID: 6391315
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [26-year-old female patient with elevated liver enzymes].
    Martin K; Schlotter B; Müller-Höcker J; Loeschke K; Pongratz D; Folwaczny C
    Z Gastroenterol; 2002 Oct; 40(10):885-90. PubMed ID: 12436356
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Biochemical diagnosis of glycogenosis type II (acid maltase deficiency) (author's transl)].
    Pilz H; Goebel HH; Stefan H; Seidel D; Kohlschütter A
    J Clin Chem Clin Biochem; 1977 Dec; 15(12):705-8. PubMed ID: 342670
    [No Abstract]   [Full Text] [Related]  

  • 11. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
    Reuser AJ; Kroos M; Willemsen R; Swallow D; Tager JM; Galjaard H
    J Clin Invest; 1987 Jun; 79(6):1689-99. PubMed ID: 3108320
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Laboratory diagnosis of the neuromuscular glycogen storage diseases.
    Farmer PM
    Ann Clin Lab Sci; 1982; 12(6):431-8. PubMed ID: 6817693
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [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]  

  • 15. [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]  

  • 16. [Clinical follow-up in the adult (myopathic) form of glycogenosis type II].
    Schejbal P; Kutzner M; Delank HW; Gullotta F
    Schweiz Arch Neurol Psychiatr (1985); 1986; 137(3):39-47. PubMed ID: 2425422
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mature 98,000-dalton acid alpha-glucosidase is deficient in Japanese quails with acid maltase deficiency.
    Suhara Y; Ishiura S; Tsukahara T; Sugita H
    Muscle Nerve; 1989 Aug; 12(8):670-8. PubMed ID: 2506448
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
    Chamoles NA; Niizawa G; Blanco M; Gaggioli D; Casentini C
    Clin Chim Acta; 2004 Sep; 347(1-2):97-102. PubMed ID: 15313146
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 11.