286 related articles for article (PubMed ID: 11880123)
1. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Chamoles NA; Blanco M; Gaggioli D; Casentini C
Clin Chim Acta; 2002 Apr; 318(1-2):133-7. PubMed ID: 11880123
[TBL] [Abstract][Full Text] [Related]
2. Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Chamoles NA; Blanco M; Gaggioli D; Casentini C
Clin Chim Acta; 2002 Mar; 317(1-2):191-7. PubMed ID: 11814475
[TBL] [Abstract][Full Text] [Related]
3. Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
Maret A; Salvayre R; Negre A; Bes JC; Douste-Blazy L
Biol Cell; 1985; 53(3):293-6. PubMed ID: 2990625
[TBL] [Abstract][Full Text] [Related]
4. Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
Kodama T; Togawa T; Tsukimura T; Kawashima I; Matsuoka K; Kitakaze K; Tsuji D; Itoh K; Ishida Y; Suzuki M; Suzuki T; Sakuraba H
PLoS One; 2011; 6(12):e29074. PubMed ID: 22205997
[TBL] [Abstract][Full Text] [Related]
5. GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Christopher R; Rangaswamy GR; Shetty KT
Indian J Pediatr; 1995; 62(4):479-83. PubMed ID: 10829909
[TBL] [Abstract][Full Text] [Related]
6. Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
Mark BL; Mahuran DJ; Cherney MM; Zhao D; Knapp S; James MN
J Mol Biol; 2003 Apr; 327(5):1093-109. PubMed ID: 12662933
[TBL] [Abstract][Full Text] [Related]
7. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.
Tropak MB; Reid SP; Guiral M; Withers SG; Mahuran D
J Biol Chem; 2004 Apr; 279(14):13478-87. PubMed ID: 14724290
[TBL] [Abstract][Full Text] [Related]
8. Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
Isaksson A; Hultberg B; Masson P; Landels E; Fensom A
Clin Chem; 1993 Jul; 39(7):1412-5. PubMed ID: 8330398
[TBL] [Abstract][Full Text] [Related]
9. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
Peleg L; Goldman B
Eur J Clin Chem Clin Biochem; 1994 Feb; 32(2):65-9. PubMed ID: 8003579
[TBL] [Abstract][Full Text] [Related]
10. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Huang JQ; Trasler JM; Igdoura S; Michaud J; Hanal N; Gravel RA
Hum Mol Genet; 1997 Oct; 6(11):1879-85. PubMed ID: 9302266
[TBL] [Abstract][Full Text] [Related]
11. Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
Lane AB; Young E; Jenkins T
Am J Hum Genet; 1980 Nov; 32(6):920-6. PubMed ID: 7446530
[TBL] [Abstract][Full Text] [Related]
12. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L; de Olano N; Macías-Vidal J; Coll MA;
Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
[TBL] [Abstract][Full Text] [Related]
13. [Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
Zwierz K; Juszkiewicz J; Arciuch L; Gindzieński A
Postepy Biochem; 1992; 38(3):127-32. PubMed ID: 1461844
[No Abstract] [Full Text] [Related]
14. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Elsafi ME; Elbashir MI; Hultberg B; Isaksson A; Hägerstrand I; Stenram U
Scand J Clin Lab Invest; 1991 Dec; 51(8):711-4. PubMed ID: 1839650
[TBL] [Abstract][Full Text] [Related]
15. Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Kaur M; Verma IC
Indian J Pediatr; 1995; 62(4):485-9. PubMed ID: 10829910
[TBL] [Abstract][Full Text] [Related]
16. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
Cantor RM; Lim JS; Roy C; Kaback MM
Am J Hum Genet; 1985 Sep; 37(5):912-21. PubMed ID: 4050790
[TBL] [Abstract][Full Text] [Related]
17. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
Inui K; Wenger DA
Clin Genet; 1984 Oct; 26(4):318-21. PubMed ID: 6238730
[TBL] [Abstract][Full Text] [Related]
18. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
McInnes B; Brown CA; Mahuran DJ
Biochim Biophys Acta; 1992 Apr; 1138(4):315-7. PubMed ID: 1532910
[TBL] [Abstract][Full Text] [Related]
19. Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
Akeboshi H; Chiba Y; Kasahara Y; Takashiba M; Takaoka Y; Ohsawa M; Tajima Y; Kawashima I; Tsuji D; Itoh K; Sakuraba H; Jigami Y
Appl Environ Microbiol; 2007 Aug; 73(15):4805-12. PubMed ID: 17557860
[TBL] [Abstract][Full Text] [Related]
20. [Reconstruction of hexosaminidase isoenzymes during hybridization of fibroblasts from Tay-Sachs and Sandhoff diseases].
Beĭer EM; Vidershaĭn GIa; Venert M
Biull Eksp Biol Med; 1984 Jan; 97(1):83-6. PubMed ID: 6229294
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]