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2. [I-cell disease and pseudo-Hurler polydystrophy]. Owada M Nihon Rinsho; 1995 Dec; 53(12):3028-34. PubMed ID: 8577054 [TBL] [Abstract][Full Text] [Related]
3. Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. Varki A; Reitman ML; Vannier A; Kornfeld S; Grubb JH; Sly WS Am J Hum Genet; 1982 Sep; 34(5):717-29. PubMed ID: 6289658 [TBL] [Abstract][Full Text] [Related]
4. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. Reitman ML; Varki A; Kornfeld S J Clin Invest; 1981 May; 67(5):1574-9. PubMed ID: 6262380 [TBL] [Abstract][Full Text] [Related]
5. [Lysosomal hydrolase activity of the plasma and leukocytes of homo- and heterozygotes with various types of I-cell disease]. Gusina NB; Tsukerman GL Vopr Med Khim; 1988; 34(3):21-5. PubMed ID: 3420804 [TBL] [Abstract][Full Text] [Related]
8. Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. Ben-Yoseph Y; Potier M; Mitchell DA; Pack BA; Melançon SB; Nadler HL Biochem J; 1987 Dec; 248(3):697-701. PubMed ID: 2829837 [TBL] [Abstract][Full Text] [Related]
9. Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report. Pourjavan S; Fryns JP; Van Hove JL; Poorthuis BJ; Casteels I Bull Soc Belge Ophtalmol; 2002; (286):19-24. PubMed ID: 12564313 [TBL] [Abstract][Full Text] [Related]
11. I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants. Mueller OT; Little LE; Miller AL; Lozzio CB; Shows TB Clin Chim Acta; 1985 Aug; 150(3):175-83. PubMed ID: 2998644 [TBL] [Abstract][Full Text] [Related]
12. [Disorders of phosphorylation system of lysosomal enzymes [mucolipidosis II, III]]. Owada M Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):469-73. PubMed ID: 9645113 [No Abstract] [Full Text] [Related]
13. Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features. Kozlowski K; Lipson A; Carey W Radiol Med; 1991 Dec; 82(6):847-51. PubMed ID: 1788443 [No Abstract] [Full Text] [Related]
14. Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. Umehara F; Matsumoto W; Kuriyama M; Sukegawa K; Gasa S; Osame M J Neurol Sci; 1997 Mar; 146(2):167-72. PubMed ID: 9077513 [TBL] [Abstract][Full Text] [Related]
16. The mucolipidoses. Gilbert-Barness EF; Barness LA Perspect Pediatr Pathol; 1993; 17():148-84. PubMed ID: 8316526 [No Abstract] [Full Text] [Related]
17. PSEUDO-FEEBLEMINDEDNESS AND THE CONCEPT OF MENTAL RETARDATION. PAPAGEORGIS D Am J Ment Defic; 1963 Nov; 68():340-4. PubMed ID: 14055758 [No Abstract] [Full Text] [Related]
18. Mucolipidosis III (pseudo-Hurler polydystrophy): report of case. Murphy RA J Am Osteopath Assoc; 1978 Sep; 78(1):83-5. PubMed ID: 701114 [No Abstract] [Full Text] [Related]