These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 117700)

  • 1. Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.
    Gravel RA; Lowden JA; Callahan JW; Wolfe LS; Ng Yin Kin NM
    Am J Hum Genet; 1979 Nov; 31(6):669-79. PubMed ID: 117700
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1.
    Okada S; Sugino H; Kato T; Yutaka T; Koike M; Dezawa T; Yamano T; Yabuuchi H
    Eur J Pediatr; 1983 Sep; 140(4):295-8. PubMed ID: 6414819
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of type 2 Gm1-gangliosidosis with long survival.
    Kikuchi K; Minami R; Kudoh T; Nakao T; Tsugawa S
    Brain Dev; 1982; 4(2):153-6. PubMed ID: 6807121
    [TBL] [Abstract][Full Text] [Related]  

  • 4. GM1-Gangliosidosis: a molecular abnormality of acid beta-galactosidase in fibroblasts.
    Furuya T; Suzuki Y
    J Inherit Metab Dis; 1984; 7(3):145-6. PubMed ID: 6438402
    [No Abstract]   [Full Text] [Related]  

  • 5. [The use of loading tests with labeled GM1-ganglioside for differential diagnosis of GM1-gangliosidosis].
    Akhunov VS; Krasnopol'skaia KD; Mirenburg TV
    Vopr Med Khim; 1989; 35(5):119-22. PubMed ID: 2515652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Type 2 GM1 gangliosidosis with long survival and neuronal ceroid lipofuscinosis.
    Lowden JA; Callahan JW; Gravel RA; Skomorowski MA; Becker L; Groves J
    Neurology; 1981 Jun; 31(6):719-24. PubMed ID: 6787458
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnosis of subtypes of GM1 gangliosidosis in vitro and in vivo--using urinary oligosaccharides as substrates.
    Takahashi Y; Orii T
    Clin Chim Acta; 1989 Feb; 179(3):219-27. PubMed ID: 2496942
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three cases of beta-galactosidase deficiency.
    Pronicka E; Tylki A; Czartoryska B; Górska D
    Klin Padiatr; 1981 Jul; 193(4):343-6. PubMed ID: 6790814
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of GM1-gangliosidosis type I: glycosphingolipid profiles of urine and transformed lymphocytes and beta-D-galactosidase activities in peripheral lymphocytes, cultured skin fibroblasts and transformed lymphocytes.
    Asano K; Shindo N; Nakasuji M; Inamori K; Ohta M; Matsushita T; Yamaguchi M; Oshima M
    Jpn J Exp Med; 1990 Apr; 60(2):73-9. PubMed ID: 2117086
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.
    Wenger DA; Sattler M; Mueller OT; Myers GG; Schneiman RS; Nixon GW
    Clin Genet; 1980 May; 17(5):323-34. PubMed ID: 6777095
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.
    Sewell AC
    J Inherit Metab Dis; 1983; 6(4):153-7. PubMed ID: 6422155
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Morquio B syndrome: a primary defect in beta-galactosidase.
    van der Horst GT; Kleijer WJ; Hoogeveen AT; Huijmans JG; Blom W; van Diggelen OP
    Am J Med Genet; 1983 Oct; 16(2):261-75. PubMed ID: 6418007
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GM1-gangliosidosis: accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types.
    Suzuki Y; Nakamura N; Fukuoka K
    Hum Genet; 1978 Aug; 43(2):127-31. PubMed ID: 99363
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters.
    Guazzi GC; D'Amore I; Van Hoof F; Fruschelli C; Alessandrini C; Palmeri S; Federico A
    Neurology; 1988 Jul; 38(7):1124-7. PubMed ID: 3133574
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Application of a GM1 ganglioside beta-galactosidase microassay method to diagnosis of GM1 gangliosidosis.
    Mutoh T; Kiuchi K; Sobue I; Naoi M
    Clin Chim Acta; 1984 Jul; 140(3):223-30. PubMed ID: 6432371
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Diagnosis of GM1 gangliosidosis based on detection of urinary oligosaccharides with high performance liquid chromatography.
    Warner TG; Robertson AD; O'Brien JS
    Clin Chim Acta; 1983 Feb; 127(3):313-26. PubMed ID: 6404572
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies.
    Kobayashi T; Suzuki K
    Ann Neurol; 1981 May; 9(5):476-83. PubMed ID: 6791575
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency.
    Ahern-Rindell AJ; Murnane RD; Prieur DJ
    Somat Cell Mol Genet; 1989 Nov; 15(6):525-33. PubMed ID: 2512653
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.
    Mancini GM; Hoogeveen AT; Galjaard H; Mansson JE; Svennerholm L
    Hum Genet; 1986 May; 73(1):35-8. PubMed ID: 3086209
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.