89 related articles for article (PubMed ID: 95910)
1. Two variant hexosaminidase beta-chain alleles segregating in a South African family.
Lane AB; Jenkins T
Clin Chim Acta; 1978 Jul; 87(2):219-28. PubMed ID: 95910
[TBL] [Abstract][Full Text] [Related]
2. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Bayleran J; Hechtman P; Saray W
Clin Chim Acta; 1984 Nov; 143(2):73-89. PubMed ID: 6239713
[TBL] [Abstract][Full Text] [Related]
3. Apparent hexosaminidase B deficiency in two healthy members of a pedigree.
Hechtman P; Rowlands A
Am J Hum Genet; 1979 Jul; 31(4):428-38. PubMed ID: 484551
[TBL] [Abstract][Full Text] [Related]
4. Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.
Wood S; MacDougall BG
Am J Hum Genet; 1976 Sep; 28(5):489-95. PubMed ID: 10724
[TBL] [Abstract][Full Text] [Related]
5. Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.
Kytzia HJ; Hinrichs U; Maire I; Suzuki K; Sandhoff K
EMBO J; 1983; 2(7):1201-5. PubMed ID: 6226523
[TBL] [Abstract][Full Text] [Related]
6. Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.
Lowden JA
Am J Hum Genet; 1979 May; 31(3):281-9. PubMed ID: 463876
[TBL] [Abstract][Full Text] [Related]
7. Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Johnson WG; Chutorian AB
Ann Neurol; 1978 Nov; 4(5):399-403. PubMed ID: 104655
[TBL] [Abstract][Full Text] [Related]
8. Carrier detection in Sandhoff disease.
Lowden JA; Ives EJ; Keene DL; Burton AL; Skomorowski MA; Howard F
Am J Hum Genet; 1978 Jan; 30(1):38-45. PubMed ID: 414620
[TBL] [Abstract][Full Text] [Related]
9. Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Ikonne JU; Rattazzi MC; Desnick RJ
Am J Hum Genet; 1975 Sep; 27(5):639-50. PubMed ID: 240271
[TBL] [Abstract][Full Text] [Related]
10. Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis.
Orlacchio A; Maffei C; Emiliani C; Coppa GV; Felici L
Experientia; 1985 Apr; 41(4):525-7. PubMed ID: 3157597
[TBL] [Abstract][Full Text] [Related]
11. Presence of an atypical thermolabile species of beta-hexosaminidase B in metastatic-tumour tissue of human liver.
Alhadeff JA; Holzinger RT
Biochem J; 1982 Jan; 201(1):95-9. PubMed ID: 6211170
[TBL] [Abstract][Full Text] [Related]
12. N-acetyl-beta-hexosaminidase B deficiency in cultured fibroblasts from a patient with progressive motor neuron disease.
Hancock LW; Horwitz AL; Cashman NR; Antel JP; Dawson G
Biochem Biophys Res Commun; 1985 Aug; 130(3):1185-92. PubMed ID: 3161509
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".
Dreyfus JC; Poenaru L; Vibert M; Ravise N; Boue J
Am J Hum Genet; 1977 May; 29(3):287-93. PubMed ID: 868875
[TBL] [Abstract][Full Text] [Related]
14. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I; Mahuran DJ; Salvayre R; Dubas F; Levade T
Biochim Biophys Acta; 1996 Nov; 1317(2):127-33. PubMed ID: 8950198
[TBL] [Abstract][Full Text] [Related]
15. Serum beta-hexosaminidases in pregnancy.
Lowden JA
Clin Chim Acta; 1979 May; 93(3):409-17. PubMed ID: 445857
[TBL] [Abstract][Full Text] [Related]
16. Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.
Molzer B; Bernheimer H
Clin Chim Acta; 1976 Nov; 73(1):163-9. PubMed ID: 826357
[TBL] [Abstract][Full Text] [Related]
17. Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Conzelmann E; Sandhoff K; Nehrkorn H; Geiger B; Arnon R
Eur J Biochem; 1978 Mar; 84(1):27-33. PubMed ID: 25769
[TBL] [Abstract][Full Text] [Related]
18. Absence of hexosaminidase A and B in a normal adult.
Dreyfus JC; Poenaru L; Svennerholm L
N Engl J Med; 1975 Jan; 292(2):61-3. PubMed ID: 1109441
[TBL] [Abstract][Full Text] [Related]
19. Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
Rattazzi MC; Brown JA; Davidson RG; Shows TB
Birth Defects Orig Artic Ser; 1975; 11(3):232-5. PubMed ID: 812568
[No Abstract] [Full Text] [Related]
20. Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
Ribeiro MG; Sonin T; Pinto RA; Fontes A; Ribeiro H; Pinto E; Palmeira MM; Sá Miranda MC
J Med Genet; 1996 Apr; 33(4):341-3. PubMed ID: 8730294
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]