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2. 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]
3. Acid maltase deficiency and related myopathies. Amato AA Neurol Clin; 2000 Feb; 18(1):151-65. PubMed ID: 10658172 [TBL] [Abstract][Full Text] [Related]
4. 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]
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. The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult. Schlenska GK; Heene R; Spalke G; Seiler D J Neurol; 1976 Jun; 212(3):237-52. PubMed ID: 58976 [TBL] [Abstract][Full Text] [Related]
7. [Diagnosis and differential diagnosis of lysosomal glycogen storage disease]. Fischer D; Paus S; Schröder R Nervenarzt; 2003 Oct; 74(10):896-9. PubMed ID: 14551696 [TBL] [Abstract][Full Text] [Related]
8. [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]
9. 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]
10. Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients. Bertagnolio B; Di Donato S; Peluchetti D; Rimoldi M; Storchi G; Cornelio F Eur Neurol; 1978; 17(4):193-204. PubMed ID: 357152 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease). Blom W; Luteyn JC; Kelholt-Dijkman HH; Huijmans JG; Loonen MC Clin Chim Acta; 1983 Oct; 134(1-2):221-7. PubMed ID: 6418415 [No Abstract] [Full Text] [Related]
13. [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]
15. Muscular form of glycogenosis type II (Pompe's disease). Tanaka K; Shimazu S; Oya N; Tomisawa M; Kusunoki T; Soyama K; Ono E Pediatrics; 1979 Jan; 63(1):124-9. PubMed ID: 375166 [TBL] [Abstract][Full Text] [Related]
16. Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family. Swash M; Schwartz MS; Apps MC J Neurol Sci; 1985 Apr; 68(1):61-74. PubMed ID: 3921668 [TBL] [Abstract][Full Text] [Related]
17. [Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet]. Ferrer X; Coquet M; Saintarailles J; Ellie E; Deleplanque B; Desnuelle C; Levade T; Lagueny A; Julien J Rev Med Interne; 1992; 13(2):149-52. PubMed ID: 1410890 [TBL] [Abstract][Full Text] [Related]