193 related articles for article (PubMed ID: 2122616)
1. [Diagnosis of lysosomal storage diseases. Pathomorphologic and biochemical possibilities].
August CH; Holzhausen HJ; Schmidt H; Stiller D; Seidlitz G; Zschiesche M
Zentralbl Allg Pathol; 1990; 136(5):443-53. PubMed ID: 2122616
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.
Akhunov VS; Mirenburg TV; Krasnopolskaya XD
J Inherit Metab Dis; 1994; 17(1):104-11. PubMed ID: 8051915
[TBL] [Abstract][Full Text] [Related]
4. Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Tsuji D; Higashine Y; Matsuoka K; Sakuraba H; Itoh K
Clin Chim Acta; 2007 Mar; 378(1-2):38-41. PubMed ID: 17196574
[TBL] [Abstract][Full Text] [Related]
5. Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Yuasa T; Fukuma M; Takashima S; Takaki R
Arch Pathol Lab Med; 1980 Jun; 104(6):321-7. PubMed ID: 6246846
[TBL] [Abstract][Full Text] [Related]
6. Morphology of the gangliosidoses.
Goebel HH
Neuropediatrics; 1984 Sep; 15 Suppl():97-106. PubMed ID: 6100800
[TBL] [Abstract][Full Text] [Related]
7. [Sandhoff's and Tay-Sachs disease--based on our own cases].
Kokot W; Raczyńska K; Krajka-Lauer J; Iwaszkiewicz-Bilikiewicz B; Wierzba J
Klin Oczna; 2004; 106(3 Suppl):534-6. PubMed ID: 15636260
[TBL] [Abstract][Full Text] [Related]
8. Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
Charrow J; Binns HJ
Clin Chim Acta; 1986 Apr; 156(1):41-9. PubMed ID: 2938852
[TBL] [Abstract][Full Text] [Related]
9. Plasma G
Blondel A; Kraoua I; Marcelino C; Khrouf W; Schlemmer D; Ganne B; Caillaud C; Fernández-Eulate G; Turki IBY; Dauriat B; Bonnefont-Rousselot D; Nadjar Y; Lamari F
Mol Genet Metab; 2023 Feb; 138(2):106983. PubMed ID: 36709536
[TBL] [Abstract][Full Text] [Related]
10. Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Utsumi K; Tsuji A; Kase R; Tanaka A; Tanaka T; Uyama E; Ozawa T; Sakuraba H; Komaba Y; Kawabe M; Iino Y; Katayama Y
Acta Neurol Scand; 2002 Jun; 105(6):427-30. PubMed ID: 12027830
[TBL] [Abstract][Full Text] [Related]
11. The clinical aspects of adult hexosaminidase deficiencies.
Federico A; Palmeri S; Malandrini A; Fabrizi G; Mondelli M; Guazzi GC
Dev Neurosci; 1991; 13(4-5):280-7. PubMed ID: 1840098
[TBL] [Abstract][Full Text] [Related]
12. L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Castejón-Vega B; Rubio A; Pérez-Pulido AJ; Quiles JL; Lane JD; Fernández-Domínguez B; Cachón-González MB; Martín-Ruiz C; Sanz A; Cox TM; Alcocer-Gómez E; Cordero MD
Cells; 2021 Nov; 10(11):. PubMed ID: 34831346
[TBL] [Abstract][Full Text] [Related]
13. Clinical course of GM2 gangliosidoses. A correlative attempt.
Schulte FJ
Neuropediatrics; 1984 Sep; 15 Suppl():66-70. PubMed ID: 6100797
[TBL] [Abstract][Full Text] [Related]
14. GM2 gangliosidosis variant B1 neuroradiological findings.
Grosso S; Farnetani MA; Berardi R; Margollicci M; Galluzzi P; Vivarelli R; Morgese G; Ballestri P
J Neurol; 2003 Jan; 250(1):17-21. PubMed ID: 12527987
[TBL] [Abstract][Full Text] [Related]
15. [Identification of GM2-gangliosidosis using an in vitro loading test].
Akhunov VS; Krasnopol'skaia KD
Vopr Med Khim; 1987; 33(4):115-9. PubMed ID: 3116767
[TBL] [Abstract][Full Text] [Related]
16. [GM2 gangliosidosis--Tay-Sacks disease and Sandhoff's disease].
Okada S
Nihon Rinsho; 1978 May; Suppl():1394-5. PubMed ID: 691367
[No Abstract] [Full Text] [Related]
17. 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]
18. Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
Utz JR; Crutcher T; Schneider J; Sorgen P; Whitley CB
Mol Genet Metab; 2015 Feb; 114(2):274-80. PubMed ID: 25557439
[TBL] [Abstract][Full Text] [Related]
19. [Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)].
Charbonne F; Rousseau P; Malpuech G; Geneix A
Arch Fr Pediatr; 1980 Jan; 37(1):51-3. PubMed ID: 7469686
[TBL] [Abstract][Full Text] [Related]
20. Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
Der Kaloustian VM; Khoury MJ; Hallal R; Idriss ZH; Deeb ME; Wakid NW; Haddad FS
Am J Hum Genet; 1981 Jan; 33(1):85-9. PubMed ID: 7468596
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
