134 related articles for article (PubMed ID: 11596653)
21. Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.
Isaacs H; Savage N; Badenhorst M; Whistler T
J Neurol Neurosurg Psychiatry; 1986 Sep; 49(9):1011-8. PubMed ID: 3093639
[TBL] [Abstract][Full Text] [Related]
22. Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency).
Usuki F; Takenaga S; Higuchi I; Kashio N; Nakagawa M; Osame M
J Neurol Sci; 1994 Dec; 127(1):54-60. PubMed ID: 7699392
[TBL] [Abstract][Full Text] [Related]
23. Electrophoretic characterization of acidic and neutral amylo 1-4-glucosidase (acid maltase) in human tissues and evidence for two electrophoretic variants in acid maltase deficiency.
Dreyfus JC; Alexandre Y
Biochem Biophys Res Commun; 1972 Aug; 48(4):914-20. PubMed ID: 4264156
[No Abstract] [Full Text] [Related]
24. [Heterogeneity of glycogenosis with alpha-1,4-glucosidase deficiency: enzymatic studies in three families (author's transl)].
Bienvenu J; Carrier H; Freycon F; Mathieu M
Clin Chim Acta; 1978 Mar; 84(3):277-92. PubMed ID: 346265
[TBL] [Abstract][Full Text] [Related]
25. Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients.
Angelini C; Engel AG; Titus JL
N Engl J Med; 1972 Nov; 287(19):948-51. PubMed ID: 4507329
[No Abstract] [Full Text] [Related]
26. Alpha-1,4 glucosidase activity in Pompe's disease.
Salafsky IS; Nadler HL
J Pediatr; 1971 Nov; 79(5):794-8. PubMed ID: 4256047
[No Abstract] [Full Text] [Related]
27. Demonstration of acid maltase protein in Pompe disease by use of immunohistochemical and enzyme immunoassay methods.
Ninomiya N; Iwamasa T; Matsuda I; Nonaka I
J Inherit Metab Dis; 1983; 6(3):131-2. PubMed ID: 6422147
[No Abstract] [Full Text] [Related]
28. Identification of heterozygotes for glycogenosis 2 (acid maltase deficiency).
Loonen MC; Schram AW; Koster JF; Niermeijer MF; Busch HF; Martin JJ; Brouwer-Kelder B; Mekes W; Slee RG; Tager JM
Clin Genet; 1981 Jan; 19(1):55-63. PubMed ID: 7006871
[TBL] [Abstract][Full Text] [Related]
29. The glycogen storage diseases.
Ryman BE
J Clin Pathol Suppl (R Coll Pathol); 1974; 8():106-21. PubMed ID: 4620884
[No Abstract] [Full Text] [Related]
30. [Muscle type acid maltase deficiency. An intermediate case between childhood type and adult type (author's transl)].
Nakagawa M; Nakazato O; Osame M; Nakashima H; Igata A
Rinsho Shinkeigaku; 1982 Jan; 22(1):57-65. PubMed ID: 6807597
[No Abstract] [Full Text] [Related]
31. [A case of glycogen storage disease with normal acid maltase accompanied with the abnormal platelet function].
Katsumi Y; Tokonami F; Matsui M; Aii H; Nonaka I
Rinsho Shinkeigaku; 1994 Aug; 34(8):827-31. PubMed ID: 7994992
[TBL] [Abstract][Full Text] [Related]
32. Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
Reuser AJ; Kroos M
FEBS Lett; 1982 Sep; 146(2):361-4. PubMed ID: 6754447
[TBL] [Abstract][Full Text] [Related]
33. Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease.
Justice P; Ryan C; Hsia DY; Krmpotik E
Biochem Biophys Res Commun; 1970 May; 39(3):301-6. PubMed ID: 5270292
[No Abstract] [Full Text] [Related]
34. 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]
35. Lysosomal glycogen storage disease without acid maltase deficiency.
Riggs JE; Schochet SS; Gutmann L; Shanske S; Neal WA; DiMauro S
Neurology; 1983 Jul; 33(7):873-7. PubMed ID: 6408499
[TBL] [Abstract][Full Text] [Related]
36. [Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].
Ohno K
Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):491-2. PubMed ID: 11032005
[No Abstract] [Full Text] [Related]
37. Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.
Brown BI; Brown DH; Jeffrey PL
Biochemistry; 1970 Mar; 9(6):1423-8. PubMed ID: 5264799
[No Abstract] [Full Text] [Related]
38. Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase.
de Barsy T; Jacquemin P; Van Hoof F; Hers HG
Birth Defects Orig Artic Ser; 1973 Mar; 9(2):184-90. PubMed ID: 4611528
[No Abstract] [Full Text] [Related]
39. 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]
40. Residual acid maltase activity in late-onset acid maltase deficiency.
Mehler M; DiMauro S
Neurology; 1977 Feb; 27(2):178-84. PubMed ID: 264606
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
