These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. [Prenatal diagnosis of glycogenosis type II (Pompe) and subsequent therapeutic abortion (author's transl)]. Schaub J; Osang M; von Bassewitz DB; Grote W; Terinde R; Lombeck I; Bremer HJ Dtsch Med Wochenschr; 1974 Nov; 99(44):2219-22, 27. PubMed ID: 4529697 [No Abstract] [Full Text] [Related]
6. Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection. Kaback M Birth Defects Orig Artic Ser; 1971 Feb; 7(1):239. PubMed ID: 5317490 [No Abstract] [Full Text] [Related]
7. Pre- and postnatal pathology, enzyme treatment, and unresolved issues in five lysosomal disorders. Hug G Pharmacol Rev; 1978 Dec; 30(4):565-91. PubMed ID: 118469 [No Abstract] [Full Text] [Related]
8. Metachromatic leukodystrophy. II. Direct determination of arylsulphatase A activity in amniotic fluid. Borresen AL; van der Hagen CB Clin Genet; 1973; 4(5):442-6. PubMed ID: 4751314 [No Abstract] [Full Text] [Related]
9. Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells. Hug G; Soukup S; Ryan M; Chuck G N Engl J Med; 1984 Apr; 310(16):1018-22. PubMed ID: 6369132 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Renal cortical tubular glycogen localization in glycogenosis type II (Pompe's disease). Witzleben CL Lab Invest; 1969 May; 20(5):424-9. PubMed ID: 4305720 [No Abstract] [Full Text] [Related]
12. [Prenatal diagnosis of metachromatic leukodystrophy]. Török O; Szokol M; Fényi A; Polgár K; Szabó M; Papp Z Orv Hetil; 1985 Feb; 126(5):273-6. PubMed ID: 2858087 [No Abstract] [Full Text] [Related]
13. Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy. Beratis NG; Fleisher LD; Danesino C; Hirschhorn K J Lab Clin Med; 1974 Jul; 84(1):49-53. PubMed ID: 4833842 [No Abstract] [Full Text] [Related]
14. [Characterization of alpha-glucosidase in skin fibroblasts in the diagnosis of glycogenosis type 2 (Pompe disease)]. Braulke T; Sandig KR Kinderarztl Prax; 1984 Aug; 52(8):377-82. PubMed ID: 6384623 [No Abstract] [Full Text] [Related]
15. [Type II mucolipidosis (I-cell disease)]. Walbaum R; Dehaene P; Scharfman W; Farriaux JP; Tondeur M; Vamos-Hurwitz E; Kint JA; Van Hoof F Arch Fr Pediatr; 1973; 30(6):577-93. PubMed ID: 4375946 [No Abstract] [Full Text] [Related]
16. [Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses]. Dreyfus JC; Poenaru L Arch Fr Pediatr; 1975; 32(6):503-14. PubMed ID: 810108 [TBL] [Abstract][Full Text] [Related]
17. Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. Thomas GH; Taylor HA; Reynolds LW; Miller CS Pediatr Res; 1973 Sep; 7(9):751-6. PubMed ID: 4200718 [No Abstract] [Full Text] [Related]
18. Problems in the application of cell culture to human genetics. Davidson RG Birth Defects Orig Artic Ser; 1974; 10(10):14-8. PubMed ID: 4618130 [No Abstract] [Full Text] [Related]
19. 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]
20. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification. Beratis NG; Turner BM; Weiss R; Hirschhorn K Pediatr Res; 1975 May; 9(5):475-80. PubMed ID: 806052 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]