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Journal Abstract Search

173 related items for PubMed ID: 1777981

  • 21. HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients.
    Peelen GO, de Jong JG, Wevers RA.
    Clin Chem; 1994 Jun; 40(6):914-21. PubMed ID: 8087986
    [Abstract] [Full Text] [Related]

  • 22. Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
    Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A.
    Pediatr Res; 1996 Jun; 39(6):1067-71. PubMed ID: 8725271
    [Abstract] [Full Text] [Related]

  • 23. Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.
    de Geest N, Bonten E, Mann L, de Sousa-Hitzler J, Hahn C, d'Azzo A.
    Hum Mol Genet; 2002 Jun 01; 11(12):1455-64. PubMed ID: 12023988
    [Abstract] [Full Text] [Related]

  • 24. Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.
    Ledvinová J, Poupĕtová H, Elleder M, Tichý J, Pĕnicková V, Harzer K.
    J Inherit Metab Dis; 1994 Jun 01; 17(1):118-9. PubMed ID: 8051919
    [No Abstract] [Full Text] [Related]

  • 25. A case of galactosialidosis.
    Nobeyama Y, Honda M, Niimura M.
    Br J Dermatol; 2003 Aug 01; 149(2):405-9. PubMed ID: 12932252
    [Abstract] [Full Text] [Related]

  • 26. Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning.
    Haverkamp F, Jacobs D, Cantz M, Hansmann M, Fahnenstich H, Zerres K.
    Fetal Diagn Ther; 1996 Aug 01; 11(2):114-9. PubMed ID: 8838767
    [Abstract] [Full Text] [Related]

  • 27. Urinary oligosaccharides of GM1-gangliosidosis. Structures of oligosaccharides excreted in the urine of type 1 but not in the urine of type 2 patients.
    Ohkura T, Yamashita K, Kobata A.
    J Biol Chem; 1981 Aug 25; 256(16):8485-90. PubMed ID: 6790542
    [Abstract] [Full Text] [Related]

  • 28. A case of galactosialidosis with a homozygous Q49R point mutation.
    Matsumoto N, Gondo K, Kukita J, Higaki K, Paragison RC, Nanba E.
    Brain Dev; 2008 Oct 25; 30(9):595-8. PubMed ID: 18396002
    [Abstract] [Full Text] [Related]

  • 29. Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.
    Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A.
    Am J Med Genet; 1996 Aug 23; 64(3):453-8. PubMed ID: 8862621
    [Abstract] [Full Text] [Related]

  • 30. Cherry-red spot myoclonus syndrome (type I sialidosis).
    Federico A, Battistini S, Ciacci G, de Stefano N, Gatti R, Durand P, Guazzi GC.
    Dev Neurosci; 1991 Aug 23; 13(4-5):320-6. PubMed ID: 1817038
    [Abstract] [Full Text] [Related]

  • 31. Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis.
    Tsuji S, Ariga T, Ando S, Tanaka Y, Kon K, Yahagi T, Ohta K, Miyatake T.
    J Biochem; 1991 May 23; 109(5):722-7. PubMed ID: 1917896
    [Abstract] [Full Text] [Related]

  • 32. Determination of sialylated and neutral oligosaccharides in urine by mass spectrometry.
    Clements PR.
    Curr Protoc Hum Genet; 2012 Jan 23; Chapter 17():Unit17.10. PubMed ID: 22241656
    [Abstract] [Full Text] [Related]

  • 33. [Biochemical diagnosis of sialidosis in a child with a "cherry spot" in the fundus oculi as the main clinical symptom of the disease].
    Tsvetkova IV, Petushkova NA, Rozenfel'd EL, Barashnev IuI, Semiachkina AN.
    Vopr Med Khim; 1984 Jan 23; 30(5):81-3. PubMed ID: 6241373
    [Abstract] [Full Text] [Related]

  • 34. Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.
    Harzer K, Cantz M, Sewell AC, Dhareshwar SS, Roggendorf W, Heckl RW, Schofer O, Thumler R, Peiffer J, Schlote W.
    Hum Genet; 1986 Nov 23; 74(3):209-14. PubMed ID: 3096875
    [Abstract] [Full Text] [Related]

  • 35. Neuraminidase activities in sialidosis and mucolipidosis.
    Kuriyama M, Miyatake T, Owada M, Kitagawa T.
    J Neurol Sci; 1982 May 23; 54(2):181-7. PubMed ID: 7097297
    [Abstract] [Full Text] [Related]

  • 36. Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
    Pérez-Cabeza MI, Borrás F, Moreno-Medinilla EE, Bardán-Rebollar D, Ferrer-López I, Rodríguez-García E, Jiménez-Machado R, Castro-Vega I, Benito C, Escudero J, Yahyaoui R.
    J AAPOS; 2019 Apr 23; 23(2):102-104. PubMed ID: 30445145
    [Abstract] [Full Text] [Related]

  • 37. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.
    Mueller OT, Henry WM, Haley LL, Byers MG, Eddy RL, Shows TB.
    Proc Natl Acad Sci U S A; 1986 Mar 23; 83(6):1817-21. PubMed ID: 3081902
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
    Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M.
    Nat Genet; 1997 Mar 23; 15(3):316-20. PubMed ID: 9054950
    [Abstract] [Full Text] [Related]

  • 40. Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.
    Palmeri S, Hoogeveen AT, Verheijen FW, Galjaard H.
    Am J Hum Genet; 1986 Feb 23; 38(2):137-48. PubMed ID: 3080874
    [Abstract] [Full Text] [Related]

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