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2. "I-cell" disease: leakage of lysosomal enzymes into extracellular fluids. Wiesmann U; Vassella F; Herschkowitz N N Engl J Med; 1971 Nov; 285(19):1090-1. PubMed ID: 4328711 [No Abstract] [Full Text] [Related]
3. Hurler's syndrome, an -L-iduronidase deficiency. Matalon R; Dorfman A Biochem Biophys Res Commun; 1972 May; 47(4):959-64. PubMed ID: 4260316 [No Abstract] [Full Text] [Related]
4. I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Gilbert EF; Dawson G; zu Rhein GM; Opitz JM; Spranger Z Kinderheilkd; 1973; 114(4):259-92. PubMed ID: 4353613 [No Abstract] [Full Text] [Related]
5. [Case of dysostosis multiplex with features of mucolipidosis II (I-cell disease)]. Barylak A Pol Przegl Radiol Med Nukl; 1974; 38(5):617-22. PubMed ID: 4374690 [No Abstract] [Full Text] [Related]
6. I-cell disease: a clinical picture. Leroy JG; Spranger JW; Feingold M; Opitz JM; Crocker AC J Pediatr; 1971 Sep; 79(3):360-5. PubMed ID: 4327936 [No Abstract] [Full Text] [Related]
7. Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. Tondeur M; Vamos-Hurwitz E; Mockel-Pohl S; Dereume JP; Cremer N; Loeb H J Pediatr; 1971 Sep; 79(3):366-78. PubMed ID: 4327937 [No Abstract] [Full Text] [Related]
8. Activity of some lysosomal enzymes in Hurler's syndrome (type i mucopolysaccharidosis). Cichocki T; Kobielowa Z; Krzanowska-Dyras M Mater Med Pol; 1974; 6(3):188-92. PubMed ID: 4216729 [No Abstract] [Full Text] [Related]
9. 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]
10. The diagnostic value of ultrastructural studies of skin-punch biopsies and buffy coat for the early diagnosis of some neurodegenerative diseases. Wisniewski KE Ann N Y Acad Sci; 1986; 477():285-311. PubMed ID: 3028228 [No Abstract] [Full Text] [Related]
11. The Hurler and Hunter syndromes. Dorfman A; Matalon R Am J Med; 1969 Nov; 47(5):691-707. PubMed ID: 4243120 [No Abstract] [Full Text] [Related]
12. Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG). Grünewald S; De Vos R; Jaeken J J Inherit Metab Dis; 2003; 26(1):49-54. PubMed ID: 12872840 [TBL] [Abstract][Full Text] [Related]
13. Human cell cultures. Their use in the investigation and diagnosis of disease. Mellman WJ; Kohn G Med Clin North Am; 1970 May; 54(3):701-12. PubMed ID: 4192952 [No Abstract] [Full Text] [Related]
14. Hepatic ultrastructure in mucolipidosis I (lipomucopolysaccharidosis). Freitag F; Blümcke S; Spranger J Virchows Arch B Cell Pathol; 1971; 7(2):189-204. PubMed ID: 4323680 [No Abstract] [Full Text] [Related]
15. Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts. Wiesmann UN; Herschkowitz NN Pediatr Res; 1974 Nov; 8(11):865-9. PubMed ID: 4374680 [No Abstract] [Full Text] [Related]
17. A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Hickman S; Shapiro LJ; Neufeld EF Biochem Biophys Res Commun; 1974 Mar; 57(1):55-61. PubMed ID: 4364008 [No Abstract] [Full Text] [Related]
18. [Ultrastructural study of the perisinusoidal cells of the liver in 3 cases of mucopolysaccharidosis]. Lafon J; Berard-Badier M; Chamlian A; Mariani R; Casanova P; Adechy-Benkoel L Pathol Biol (Paris); 1972 Jan; 20(1):15-21. PubMed ID: 4335125 [No Abstract] [Full Text] [Related]
19. [Mucopolysaccharide storage diseases. I. Clinical aspects and diagnosis]. Kirchner M; Hässler A; Machnick G Kinderarztl Prax; 1980; 48(1):19-32. PubMed ID: 6243725 [No Abstract] [Full Text] [Related]
20. Mitochondrial inclusions in fibroblast culture from a patient with beta-methylcrotonylglycinuria. McLean J; Stewart G J Med Genet; 1974 Sep; 11(3):257-9. PubMed ID: 4372354 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]