201 related articles for article (PubMed ID: 6438403)
21. Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients.
Suzuki Y; Fukuoka K; Sakuraba H; Hayashi K; Ko YM
Adv Exp Med Biol; 1982; 152():241-51. PubMed ID: 6814202
[TBL] [Abstract][Full Text] [Related]
22. Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency.
Tsuji S; Yamada T; Tsutsumi A; Miyatake T
Ann Neurol; 1982 May; 11(5):541-3. PubMed ID: 6808893
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient.
Loonen MC; Reuser AJ; Visser P; Arts WF
Clin Genet; 1984 Aug; 26(2):139-49. PubMed ID: 6432381
[TBL] [Abstract][Full Text] [Related]
25. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
Kwak JE; Son MY; Son YS; Son MJ; Cho YS
Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812
[TBL] [Abstract][Full Text] [Related]
26. Biochemical study of sialidosis type I in a Russian family.
Tsvetkova IV; Petushkova NA; Zolotuchina TV; Kucharenko VI; Rosenfeld EL
J Inherit Metab Dis; 1987; 10(1):18-23. PubMed ID: 3106711
[TBL] [Abstract][Full Text] [Related]
27. Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.
Vieira de Rezende Pinto WB; Sgobbi de Souza PV; Pedroso JL; Barsottini OG
J Clin Neurosci; 2013 Sep; 20(9):1327-8. PubMed ID: 23870618
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
Lukong KE; Elsliger MA; Chang Y; Richard C; Thomas G; Carey W; Tylki-Szymanska A; Czartoryska B; Buchholz T; Criado GR; Palmeri S; Pshezhetsky AV
Hum Mol Genet; 2000 Apr; 9(7):1075-85. PubMed ID: 10767332
[TBL] [Abstract][Full Text] [Related]
30. Neuraminidase deficiency presenting as non-immune hydrops fetalis.
Beck M; Bender SW; Reiter HL; Otto W; Bässler R; Dancygier H; Gehler J
Eur J Pediatr; 1984 Dec; 143(2):135-9. PubMed ID: 6240403
[TBL] [Abstract][Full Text] [Related]
31. Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease).
Potier M; Melançon SB; Dallaire L; Chicoine R; Mameli L; Bélisle M
Am J Med Genet; 1979; 4(2):191-200. PubMed ID: 517575
[TBL] [Abstract][Full Text] [Related]
32. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong KE; Landry K; Elsliger MA; Chang Y; Lefrancois S; Morales CR; Pshezhetsky AV
J Biol Chem; 2001 May; 276(20):17286-90. PubMed ID: 11279074
[TBL] [Abstract][Full Text] [Related]
33. beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum.
Ishibashi A; Tsuboi R; Shinmei M
Arch Dermatol; 1984 Oct; 120(10):1344-6. PubMed ID: 6435542
[TBL] [Abstract][Full Text] [Related]
34. beta-Galactosidase--neuraminidase deficiency. Deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts.
Sakuraba H; Suzuki Y; Fukuoka K; Hayashi K
J Inherit Metab Dis; 1982; 5(2):79-80. PubMed ID: 6820429
[No Abstract] [Full Text] [Related]
35. Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations.
Till JS; Roach ES; Burton BK
J Clin Neuroophthalmol; 1987 Mar; 7(1):40-4. PubMed ID: 2952680
[TBL] [Abstract][Full Text] [Related]
36. [A new observation of cherry-red spot myoclonus syndrome (author's transl)].
Martin JJ
Acta Neurol Belg; 1980; 80(1):30-6. PubMed ID: 7361541
[TBL] [Abstract][Full Text] [Related]
37. beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case.
Sakuraba H; Suzuki Y; Akagi M; Sakai M; Amano N
Ann Neurol; 1983 May; 13(5):497-503. PubMed ID: 6408977
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.
Gravel RA; Lowden JA; Callahan JW; Wolfe LS; Ng Yin Kin NM
Am J Hum Genet; 1979 Nov; 31(6):669-79. PubMed ID: 117700
[TBL] [Abstract][Full Text] [Related]
40. Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.
D'Agrosa RM; Hubbes M; Zhang S; Shankaran R; Callahan JW
Biochem J; 1992 Aug; 285 ( Pt 3)(Pt 3):833-8. PubMed ID: 1497621
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
