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 *

147 related articles for article (PubMed ID: 1779610)

  • 1. Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease.
    Jakobs C; ten Brink HJ; Langelaar SA; Zee T; Stellaard F; Macek M; Srsnová K; Srsen S; Kleijer WJ
    J Inherit Metab Dis; 1991; 14(5):653-60. PubMed ID: 1779610
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
    Al-Dirbashi OY; Kurdi W; Imtiaz F; Ahmad AM; Al-Sayed M; Tulbah M; Al-Nemer M; Rashed MS
    Prenat Diagn; 2009 May; 29(5):477-80. PubMed ID: 19235826
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.
    Gibson KM; ten Brink HJ; Schor DS; Kok RM; Bootsma AH; Hoffmann GF; Jakobs C
    Pediatr Res; 1993 Sep; 34(3):277-80. PubMed ID: 8134166
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.
    Kok RM; Kaster L; de Jong AP; Poll-Thé B; Saudubray JM; Jakobs C
    Clin Chim Acta; 1987 Sep; 168(2):143-52. PubMed ID: 3315316
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
    Matalon R; Michals K; Sebesta D; Deanching M; Gashkoff P; Casanova J
    Am J Med Genet; 1988 Feb; 29(2):463-71. PubMed ID: 3354621
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
    Elpeleg ON; Shaag A; Anikster Y; Jakobs C
    J Inherit Metab Dis; 1994; 17(6):664-6. PubMed ID: 7707689
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.
    Kelley RI
    J Inherit Metab Dis; 1993; 16(5):918-9. PubMed ID: 8295422
    [No Abstract]   [Full Text] [Related]  

  • 8. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.
    Gibson KM; Aramaki S; Sweetman L; Nyhan WL; DeVivo DC; Hodson AK; Jakobs C
    Biomed Environ Mass Spectrom; 1990 Feb; 19(2):89-93. PubMed ID: 2407302
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.
    Jakobs C; Sweetman L; Nyhan WL; Gruenke L; Craig JC; Wadman SK
    Clin Chim Acta; 1984 Nov; 143(2):123-33. PubMed ID: 6391739
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of Canavan disease.
    Matalon R; Michals K; Gashkoff P; Kaul R
    J Inherit Metab Dis; 1992; 15(3):392-4. PubMed ID: 1405477
    [No Abstract]   [Full Text] [Related]  

  • 11. Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.
    Jakobs C; Sweetman L; Nyhan WL; Packman S
    J Inherit Metab Dis; 1984; 7(1):15-20. PubMed ID: 6429435
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.
    Verhoeven NM; Kulik W; van den Heuvel CM; Jakobs C
    J Inherit Metab Dis; 1995; 18 Suppl 1():45-60. PubMed ID: 9053555
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.
    Jakobs C; Warner TG; Sweetman L; Nyhan WL
    Pediatr Res; 1984 Aug; 18(8):714-8. PubMed ID: 6433315
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.
    Naylor G; Sweetman L; Nyhan WL; Hornbeck C; Griffiths J; Mörch L; Brandänge S
    Clin Chim Acta; 1980 Nov; 107(3):175-83. PubMed ID: 7002368
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism.
    Tavazzi B; Lazzarino G; Leone P; Amorini AM; Bellia F; Janson CG; Di Pietro V; Ceccarelli L; Donzelli S; Francis JS; Giardina B
    Clin Biochem; 2005 Nov; 38(11):997-1008. PubMed ID: 16139832
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.
    Hoffmann GF; Sweetman L; Bremer HJ; Hunneman DH; Hyánek J; Kozich V; Lehnert W; Nyhan WL; Speidel I; Trefz FK
    Clin Chim Acta; 1991 May; 198(3):209-27. PubMed ID: 1653652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.
    Bennett MJ; Gibson KM; Sherwood WG; Divry P; Rolland MO; Elpeleg ON; Rinaldo P; Jakobs C
    J Inherit Metab Dis; 1993; 16(5):831-6. PubMed ID: 8295397
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.
    Jakobs C; Dorland L; Wikkerink B; Kok RM; de Jong AP; Wadman SK
    Clin Chim Acta; 1988 Feb; 171(2-3):223-31. PubMed ID: 3286060
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.
    Al-Dirbashi OY; Rashed MS; Al-Qahtani K; Al-Mokhadab MA; Kurdi W; Al-Sayed MA
    J Inherit Metab Dis; 2007 Aug; 30(4):612. PubMed ID: 17632691
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry.
    Kelley RI; Stamas JN
    J Inherit Metab Dis; 1992; 15(1):97-104. PubMed ID: 1583881
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.