169 related articles for article (PubMed ID: 8068159)
21. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A; Garman SC; Rivera-Colón Y; Procopio E; Catarzi S; Ferri L; Guido C; Martelli P; Parini R; Antuzzi D; Battini R; Sibilio M; Simonati A; Fontana E; Salviati A; Akinci G; Cereda C; Dionisi-Vici C; Deodato F; d'Amico A; d'Azzo A; Bertini E; Filocamo M; Scarpa M; di Rocco M; Tifft CJ; Ciani F; Gasperini S; Pasquini E; Guerrini R; Donati MA; Morrone A
Biochim Biophys Acta; 2011 Jul; 1812(7):782-90. PubMed ID: 21497194
[TBL] [Abstract][Full Text] [Related]
22. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
Karimzadeh P; Naderi S; Modarresi F; Dastsooz H; Nemati H; Farokhashtiani T; Shamsian BS; Inaloo S; Faghihi MA
BMC Med Genet; 2017 Jul; 18(1):73. PubMed ID: 28716012
[TBL] [Abstract][Full Text] [Related]
23. The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L; Komlosi K; Seegräber M; Diederich S; Paschke E; Amraoui Y; Beblo S; Dieckmann A; Smitka M; Hennermann JB
J Pediatr; 2019 Dec; 215():152-157.e3. PubMed ID: 31761138
[TBL] [Abstract][Full Text] [Related]
24. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
[TBL] [Abstract][Full Text] [Related]
25. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Santamaria R; Blanco M; Chabás A; Grinberg D; Vilageliu L
Clin Genet; 2007 Mar; 71(3):273-9. PubMed ID: 17309651
[TBL] [Abstract][Full Text] [Related]
26. [beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].
Yoshida K; Yanagisawa N
Nihon Rinsho; 1995 Dec; 53(12):2960-6. PubMed ID: 8577043
[TBL] [Abstract][Full Text] [Related]
27. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Sperb F; Vairo F; Burin M; Mayer FQ; Matte U; Giugliani R
Gene; 2013 Jan; 512(1):113-6. PubMed ID: 23046582
[TBL] [Abstract][Full Text] [Related]
28. GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
Oshima A; Yoshida K; Ishizaki A; Shimmoto M; Fukuhara Y; Sakuraba H; Suzuki Y
Clin Genet; 1992 May; 41(5):235-8. PubMed ID: 1606711
[TBL] [Abstract][Full Text] [Related]
29. beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
Kaye EM; Shalish C; Livermore J; Taylor HA; Stevenson RE; Breakefield XO
J Child Neurol; 1997 Jun; 12(4):242-7. PubMed ID: 9203065
[TBL] [Abstract][Full Text] [Related]
30. Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis.
Matsuda J; Suzuki O; Oshima A; Ogura A; Noguchi Y; Yamamoto Y; Asano T; Takimoto K; Sukegawa K; Suzuki Y; Naiki M
Glycoconj J; 1997 Sep; 14(6):729-36. PubMed ID: 9337086
[TBL] [Abstract][Full Text] [Related]
31. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva CM; Severini MH; Sopelsa A; Coelho JC; Zaha A; d'Azzo A; Giugliani R
Hum Mutat; 1999; 13(5):401-9. PubMed ID: 10338095
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. A common mutation site in the beta-galactosidase gene originates in Puerto Rico.
Chiu NC; Qian WH; Shanske AL; Brooks SS; Boustany RM
Pediatr Neurol; 1996 Jan; 14(1):53-6. PubMed ID: 8652017
[TBL] [Abstract][Full Text] [Related]
34. GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
Nishimoto J; Nanba E; Inui K; Okada S; Suzuki K
Am J Hum Genet; 1991 Sep; 49(3):566-74. PubMed ID: 1909089
[TBL] [Abstract][Full Text] [Related]
35. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS; Choi JM; Lee M; Kim SY; Lee S; Lim BC; Cheon JE; Kim IO; Kim KJ; Choi M; Seong MW; Chae JH
Brain Dev; 2018 May; 40(5):383-390. PubMed ID: 29439846
[TBL] [Abstract][Full Text] [Related]
36. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
Caciotti A; Donati MA; d'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A
Eur J Paediatr Neurol; 2009 Mar; 13(2):160-4. PubMed ID: 18571950
[TBL] [Abstract][Full Text] [Related]
37. Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery.
Broekman ML; Baek RC; Comer LA; Fernandez JL; Seyfried TN; Sena-Esteves M
Mol Ther; 2007 Jan; 15(1):30-7. PubMed ID: 17164772
[TBL] [Abstract][Full Text] [Related]
38. A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
Suzuki Y; Oshima A
Hum Genet; 1993 May; 91(4):407. PubMed ID: 8500799
[No Abstract] [Full Text] [Related]
39. Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Richter JE; Zimmermann MT; Blackburn PR; Mohammad AN; Klee EW; Pollard LM; Macmurdo CF; Atwal PS; Caulfield TR
Mol Genet Genomic Med; 2018 Nov; 6(6):1229-1235. PubMed ID: 30187681
[TBL] [Abstract][Full Text] [Related]
40. Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.
Kreutzer R; Kreutzer M; Pröpsting MJ; Sewell AC; Leeb T; Naim HY; Baumgärtner W
J Cell Mol Med; 2008; 12(5A):1661-71. PubMed ID: 18088383
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]