221 related articles for article (PubMed ID: 7270511)
41. Partial characterization and studies of fibroblast and leucocyte neuraminidase activities towards sialyloligosaccharides in adult sialidosis and mucolipidosis II and III.
Kuriyama M; Someya F; Miyatake T; Koseki M
Biochim Biophys Acta; 1981 Dec; 662(2):220-5. PubMed ID: 7317438
[TBL] [Abstract][Full Text] [Related]
42. Sialidosis: a review of human neuraminidase deficiency.
Lowden JA; O'Brien JS
Am J Hum Genet; 1979 Jan; 31(1):1-18. PubMed ID: 107795
[No Abstract] [Full Text] [Related]
43. Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).
Beck M; Barone R; Hoffmann R; Kratzer W; Rakowsky T; Nigro F; Fiumara A
Clin Genet; 1995 Apr; 47(4):191-9. PubMed ID: 7628121
[TBL] [Abstract][Full Text] [Related]
44. Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
Swallow DM; O'Brien JS; Hoogeveen AT; Buck DW
Ann Hum Genet; 1981 Feb; 45(1):29-37. PubMed ID: 6459053
[TBL] [Abstract][Full Text] [Related]
45. Effect of bacterial endotoxin on lysosomal enzyme activities of normal and mucolipidosis III fibroblasts.
Di Natale P; Stabile M; Ronsisvalle L; Utili R
Biomedicine; 1981 May; 35(2):46-9. PubMed ID: 7260237
[TBL] [Abstract][Full Text] [Related]
46. [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]
47. Isolation and structural characterization of sialic acid-containing storage material from mucolipidosis I (sialidosis) fibroblasts.
van Pelt J; Kamerling JP; Vliegenthart JF; Verheijen FW; Galjaard H
Biochim Biophys Acta; 1988 Apr; 965(1):36-45. PubMed ID: 3349104
[TBL] [Abstract][Full Text] [Related]
48. [Mucolipidosis III. Apropos of a case].
Lacasa A; Chabás A; Vera F; Díaz N; Martín N; Tajada N; Gonzalvo N
An Esp Pediatr; 1983 Aug; 19(2):118-22. PubMed ID: 6229200
[TBL] [Abstract][Full Text] [Related]
49. Demonstration of altered acidic hydrolases in fibroblasts from patients with mucolipidosis II by lectin titration.
Rousson R; Ben-Yoseph Y; Fiddler MB; Nadler HL
Biochem J; 1979 Jun; 180(3):501-5. PubMed ID: 486128
[TBL] [Abstract][Full Text] [Related]
50. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.
Mueller OT; Henry WM; Haley LL; Byers MG; Eddy RL; Shows TB
Proc Natl Acad Sci U S A; 1986 Mar; 83(6):1817-21. PubMed ID: 3081902
[TBL] [Abstract][Full Text] [Related]
51. Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland.
Tylki-Szymanska A; Lugowska A; Czartoryska B
Acta Paediatr Jpn; 1996 Oct; 38(5):529-32. PubMed ID: 8942016
[TBL] [Abstract][Full Text] [Related]
52. [Sialidosis due to alpha-2-6 neuraminidase deficiency: a heterogeneous group].
Maroteaux P
Arch Fr Pediatr; 1978 Oct; 35(8):815-8. PubMed ID: 747491
[No Abstract] [Full Text] [Related]
53. The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Honey NK; Miller AL; Shows TB
Am J Med Genet; 1981; 9(3):239-53. PubMed ID: 7282783
[TBL] [Abstract][Full Text] [Related]
54. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
Bonten EJ; Arts WF; Beck M; Covanis A; Donati MA; Parini R; Zammarchi E; d'Azzo A
Hum Mol Genet; 2000 Nov; 9(18):2715-25. PubMed ID: 11063730
[TBL] [Abstract][Full Text] [Related]
55. Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C; Penzel R; Uhl J; Zoubaa S; Dietrich H; Decker N; Rieger P; Kopitz J; Otto HF; Kiessling M; Cantz M
Hum Genet; 2001 Oct; 109(4):421-8. PubMed ID: 11702224
[TBL] [Abstract][Full Text] [Related]
56. Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.
Cantz M; Gehler J; Spranger J
Biochem Biophys Res Commun; 1977 Jan; 74(2):732-8. PubMed ID: 836321
[No Abstract] [Full Text] [Related]
57. Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
Glössl J; Kresse H; Mendla K; Cantz M; Rosenkranz W
Pediatr Res; 1984 Mar; 18(3):302-5. PubMed ID: 6427747
[TBL] [Abstract][Full Text] [Related]
58. [Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)].
Gehler J
Monatsschr Kinderheilkd; 1981 Nov; 129(11):610-20. PubMed ID: 6798422
[TBL] [Abstract][Full Text] [Related]
59. 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]
60. [Analysis of sialic acid-related substances and its clinical application. A. Analysis of sialic acid in clinical specimens other than sera. 1. Analysis of total urinary sialic acid, with special reference to the fluctuations in children].
Okamura Y; Yamanaka T; Suzuki Y
Rinsho Byori; 1983 Mar; Suppl 54():165-8. PubMed ID: 6887571
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
