101 related articles for article (PubMed ID: 104655)
1. 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]
2. Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.
Johnson WG; Cohen CS; Miranda AF; Waran SP; Chutorian AM
Am J Hum Genet; 1980 Jul; 32(4):508-18. PubMed ID: 6772023
[TBL] [Abstract][Full Text] [Related]
3. Hexosaminidase A deficiency in adults.
Navon R; Argov Z; Frisch A
Am J Med Genet; 1986 May; 24(1):179-96. PubMed ID: 2939718
[TBL] [Abstract][Full Text] [Related]
4. A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
Johnson WG; Chutorian A; Miranda A
Neurology; 1977 Nov; 27(11):1012-8. PubMed ID: 562995
[TBL] [Abstract][Full Text] [Related]
5. Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Sango K; McDonald MP; Crawley JN; Mack ML; Tifft CJ; Skop E; Starr CM; Hoffmann A; Sandhoff K; Suzuki K; Proia RL
Nat Genet; 1996 Nov; 14(3):348-52. PubMed ID: 8896570
[TBL] [Abstract][Full Text] [Related]
6. Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
Nakagawa S; Kumin S; Sachs G; Nitowsky HM
Am J Med Genet; 1983 Mar; 14(3):525-32. PubMed ID: 6859103
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Cashman NR; Antel JP; Hancock LW; Dawson G; Horwitz AL; Johnson WG; Huttenlocher PR; Wollmann RL
Ann Neurol; 1986 Jun; 19(6):568-72. PubMed ID: 3014997
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genetic heterogeneity of the hexosaminidase deficiency diseases.
Johnson WG
Res Publ Assoc Res Nerv Ment Dis; 1983; 60():215-37. PubMed ID: 6337393
[No Abstract] [Full Text] [Related]
12. Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Barbeau A; Plasse L; Cloutier T; Paris S; Roy M
Can J Neurol Sci; 1984 Nov; 11(4 Suppl):601-6. PubMed ID: 6239679
[TBL] [Abstract][Full Text] [Related]
13. Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.
Meek D; Wolfe LS; Andermann E; Andermann F
Ann Neurol; 1984 Apr; 15(4):348-52. PubMed ID: 6430210
[TBL] [Abstract][Full Text] [Related]
14. Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Adams C; Green S
Dev Med Child Neurol; 1986 Apr; 28(2):236-43. PubMed ID: 2940136
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Gangliosidoses.
Patterson MC
Handb Clin Neurol; 2013; 113():1707-8. PubMed ID: 23622392
[TBL] [Abstract][Full Text] [Related]
17. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
Argov Z; Navon R
Ann Neurol; 1984 Jul; 16(1):14-20. PubMed ID: 6235771
[TBL] [Abstract][Full Text] [Related]
18. [Juvenile Sandhoff disease with local panatrophy--a case report].
Nakano R; Wakamatsu N; Tsuji S; Matsumura G; Miyatake T
Rinsho Shinkeigaku; 1989 Aug; 29(8):1032-8. PubMed ID: 2532090
[TBL] [Abstract][Full Text] [Related]
19. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Johnson WG; Wigger HJ; Karp HR; Glaubiger LM; Rowland LP
Ann Neurol; 1982 Jan; 11(1):11-6. PubMed ID: 6460466
[TBL] [Abstract][Full Text] [Related]
20. Inborn errors of lysosomal catabolism--principles of heterozygote detection.
Jolly RD; Desnick RJ
Am J Med Genet; 1979; 4(3):293-307. PubMed ID: 117711
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]