BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 11883111)

  • 21. Mucolipidosis II (I-cell disease): studies of muscle biopsy and muscle cultures.
    Shanske S; Miranda AF; Penn AS; DiMauro S
    Pediatr Res; 1981 Oct; 15(10):1334-9. PubMed ID: 6458012
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mucolipidosis II. The clinical, radiological and biochemical features in three cases.
    Whelan DT; Chang PL; Cockshott PW
    Clin Genet; 1983 Aug; 24(2):90-6. PubMed ID: 6137302
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)].
    Deugnier Y; Le Treut A; Glaise D; Brissot P; Le Gall JY
    Clin Chim Acta; 1980 Dec; 108(3):385-92. PubMed ID: 6110495
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.
    Waheed A; Hasilik A; Cantz M; von Figura K
    Hoppe Seylers Z Physiol Chem; 1982 Feb; 363(2):169-78. PubMed ID: 6460679
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
    Kollmann K; Damme M; Markmann S; Morelle W; Schweizer M; Hermans-Borgmeyer I; Röchert AK; Pohl S; Lübke T; Michalski JC; Käkelä R; Walkley SU; Braulke T
    Brain; 2012 Sep; 135(Pt 9):2661-75. PubMed ID: 22961545
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Effect of the co-existence of galactosyl and phosphomannosyl residues on beta-hexosaminidase on the processing and transport of the enzyme in mucolipidosis I fibroblasts.
    Vladutiu GD
    Biochim Biophys Acta; 1983 Nov; 760(3):363-70. PubMed ID: 6226317
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Cholesteatoma-associated pathogenicity: potential role of lysosomal exoglycosidases.
    Olszewska E; Jakimowicz-Rudy J; Knas M; Chilimoniuk M; Pietruski JK; Sieskiewicz A
    Otol Neurotol; 2012 Jun; 33(4):596-603. PubMed ID: 22588235
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis (ML) II and III.
    den Tandt WR
    Clin Chim Acta; 1980 Mar; 102(2-3):199-205. PubMed ID: 6245813
    [No Abstract]   [Full Text] [Related]  

  • 29. Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III.
    Kress BC; Miller AL
    Biochem J; 1979 Feb; 177(2):409-15. PubMed ID: 35150
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Lysosomal enzyme activity of cultured fetal cells in Chinese and its clinical application].
    Yang RC; Yang SL; Chen SW; Jing SH; Sheu LJ; Chang SC; Huang YH; Lee DM; Chao MC
    Gaoxiong Yi Xue Ke Xue Za Zhi; 1993 Dec; 9(12):668-75. PubMed ID: 8207765
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
    Tiede S; Cantz M; Spranger J; Braulke T
    Hum Mutat; 2006 Aug; 27(8):830-1. PubMed ID: 16835905
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis.
    Mueller OT; Wenger DA
    Clin Chim Acta; 1981 Feb; 109(3):313-24. PubMed ID: 7226521
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies.
    Kuriyama M; Okada S; Tanaka Y; Umezaki H
    J Neurol Sci; 1980 May; 46(2):245-54. PubMed ID: 6770051
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
    Song J; Lee DS; Cho HI; Kim JQ; Cho TJ
    J Korean Med Sci; 2003 Oct; 18(5):722-6. PubMed ID: 14555827
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Light and heavy lysosomes: characterization of N-acetyl-beta-D-hexosaminidase isolated from normal and I-cell disease lymphoblasts.
    Miller AL; Norton V; Robertson R; Jenks M; Yeh RY; Wright D
    Glycobiology; 1993 Aug; 3(4):313-8. PubMed ID: 8400547
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases.
    Yuksel A; Kayserili H; Gungor F
    Fetal Diagn Ther; 2007; 22(3):198-202. PubMed ID: 17228159
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Lysosomal enzymuria in preeclampsia.
    Jackson DW; Sciscione A; Hartley TL; Haynes AL; Carder EA; Blakemore KJ; Idrisa A; Glew RH
    Am J Kidney Dis; 1996 Jun; 27(6):826-33. PubMed ID: 8651247
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Diagnostic significance of lysosomal enzymes in different types of leukemias.
    Hultberg B; Sjögren U
    Acta Med Scand; 1980; 207(1-2):105-10. PubMed ID: 6768223
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Behaviour of several enzymes of lysosomal origin in human plasma during whole blood storage.
    Lombardo A; Goi G; Guagnellini E; Fabi A; Sciorelli G; Burlina AB; Tettamanti G
    Clin Chim Acta; 1984 Nov; 143(3):343-53. PubMed ID: 6094044
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.