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42. A micro-radiochemical assay for alpha-1,4-glucosidase and its use in the assessment of type II glycogenosis (Pompe's disease). Nelson PV; Carey WF; Pollard AC Clin Chim Acta; 1977 Jun; 77(3):337-42. PubMed ID: 17494 [TBL] [Abstract][Full Text] [Related]
43. [Acid maltase in leukocytes and in cultivated skin cells in Pompe's disease]. Tenconi R; Baccichetti C Riv Anat Patol Oncol; 1968; 33():516-9. PubMed ID: 5280243 [No Abstract] [Full Text] [Related]
45. [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]
47. Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. Hug G; Schubert WK; Soukup S Birth Defects Orig Artic Ser; 1973 Mar; 9(2):160-83. PubMed ID: 4215475 [No Abstract] [Full Text] [Related]
48. How to use… white blood cell enzyme assays. Davison J Arch Dis Child Educ Pract Ed; 2017 Jun; 102(3):143-147. PubMed ID: 27852635 [TBL] [Abstract][Full Text] [Related]
49. Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency. Prence EM; Gleason J; Natowicz MR Clin Chim Acta; 1996 Mar; 247(1-2):167-73. PubMed ID: 8920235 [No Abstract] [Full Text] [Related]
50. Lysosomal storage in human skeletal muscle. Carpenter S; Karpati G Hum Pathol; 1986 Jul; 17(7):683-703. PubMed ID: 3087857 [TBL] [Abstract][Full Text] [Related]
51. 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]
52. External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study. Ruijter GJ; Boer M; Weykamp CW; de Vries R; van den Berg I; Janssens-Puister J; Niezen-Koning K; Wevers RA; Poorthuis BJ; van Diggelen OP J Inherit Metab Dis; 2005; 28(6):979-90. PubMed ID: 16435191 [TBL] [Abstract][Full Text] [Related]
54. Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts. Yang HW; Kikuchi T; Hagiwara Y; Mizutani M; Chen YT; Van Hove JL Pediatr Res; 1998 Mar; 43(3):374-80. PubMed ID: 9505277 [TBL] [Abstract][Full Text] [Related]
55. [Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. II. Enzyme diseases with predominant psychiatric and neurologic symptoms]. Elleder M Sb Lek; 1994; 95(3):231-8. PubMed ID: 8711353 [TBL] [Abstract][Full Text] [Related]
56. Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Walvoort HC; Koster JF; Reuser AJ Res Vet Sci; 1985 Mar; 38(2):174-8. PubMed ID: 3923581 [TBL] [Abstract][Full Text] [Related]
57. Possible prenatal diagnosis of type III glycogenosis. Maire I; Mathieu M J Inherit Metab Dis; 1986; 9(1):89-91. PubMed ID: 2941619 [TBL] [Abstract][Full Text] [Related]
58. [A patient with lysosomal glycogen storage disease with normal acid maltase]. Itoh M; Asano Y; Shimohira M; Iwakawa Y; Goto Y; Nonaka I No To Hattatsu; 1993 Sep; 25(5):459-64. PubMed ID: 8398237 [TBL] [Abstract][Full Text] [Related]
59. 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]
60. 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] [Previous] [Next] [New Search]