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2. Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study. Stein H; Berman ER; Livni N; Merin S; Sheskin J; Cohen T Isr J Med Sci; 1974 May; 10(5):463-75. PubMed ID: 4213328 [No Abstract] [Full Text] [Related]
3. [Proceedings: Fluorimetric determination of some enzymes in leukocytes involved in metabolic disorders]. Marchesini S; Di Donato S; Tettamanti G; Zambotti V Quad Sclavo Diagn; 1973 Mar; 9(1):472-83. PubMed ID: 4788724 [No Abstract] [Full Text] [Related]
4. Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. Goldberg MF; Cotlier E; Fichenscher LG; Kenyon K; Enat R; Borowsky SA Arch Intern Med; 1971 Sep; 128(3):387-98. PubMed ID: 4999185 [No Abstract] [Full Text] [Related]
5. Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3. Gordon BA; Feleki V Clin Biochem; 1970 Sep; 3(3):193-202. PubMed ID: 4258597 [No Abstract] [Full Text] [Related]
6. Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Hall CW; Neufeld EF Arch Biochem Biophys; 1973 Oct; 158(2):817-21. PubMed ID: 4205743 [No Abstract] [Full Text] [Related]
7. The use of alpha-L-iduronidase activity determinations in leucocytes for the detection of Hurler and Scheie syndromes. Liem KO; Hooghwinkel GJ Clin Chim Acta; 1975 Apr; 60(2):259-62. PubMed ID: 805007 [No Abstract] [Full Text] [Related]
8. Acid hydrolases in skin and plasma in gargoylism. Deficiency of beta-galactosidase in skin. Ockerman PA Clin Chim Acta; 1968 Apr; 20(1):1-6. PubMed ID: 4967992 [No Abstract] [Full Text] [Related]
9. White blood cell acid hydrolases in leukaemias, mucopolysaccharidoses and mannosidosis. Hultberg B; Autio S; Berg B; Ockerman PA Scand J Haematol; 1973; 10(4):265-72. PubMed ID: 4202974 [No Abstract] [Full Text] [Related]
10. [Enzyme deficiencies detected on cultured fibroblasts and amniotic cells. Application to prenatal diagnosis]. Dreyfus JC; Poenaru L Ann Biol Clin (Paris); 1975; 33(6):465-72. PubMed ID: 818927 [TBL] [Abstract][Full Text] [Related]
11. Deficiency of lysosomal enzymes in storage diseases. Den Tandt WR; Giesberts MA Biochem Med; 1973 Jun; 7(3):441-51. PubMed ID: 4268487 [No Abstract] [Full Text] [Related]
15. Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells. Butterworth J J Inherit Metab Dis; 1978; 1(1):25-8. PubMed ID: 117232 [TBL] [Abstract][Full Text] [Related]
16. Effect of serum concentration, type of culture medium and pH on the lysosomal enzyme activity of cultured human amniotic fluid cells. Butterworth J; Sutherland GR; Broadhead DM; Bain AD Clin Chim Acta; 1974 Jun; 53(2):239-46. PubMed ID: 4858313 [No Abstract] [Full Text] [Related]
17. Mucopolysaccharide storage diseases and lysosomal hydrolases in cultured fibroblasts. den Tandt WR; Schaberg A Pathol Eur; 1973; 8(1):3-11. PubMed ID: 4269628 [No Abstract] [Full Text] [Related]
18. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts. Fluharty AL; Stevens RL; Sanders DL; Kihara H Biochem Biophys Res Commun; 1974 Jul; 59(2):455-61. PubMed ID: 4277366 [No Abstract] [Full Text] [Related]