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 *

131 related articles for article (PubMed ID: 2505247)

  • 21. 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]  

  • 22. Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.
    Kvittingen EA; Steinmann B; Gitzelmann R; Leonard JV; Andria G; Børresen AL; Mossman J; Micara G; Lindblad B
    Pediatr Res; 1985 Apr; 19(4):334-7. PubMed ID: 4000758
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P-protein of the glycine cleavage complex.
    Wijburg FA; de Groot CJ; Schutgens RB; Barth PG; Tada K
    J Inherit Metab Dis; 1988; 11 Suppl 2():218-20. PubMed ID: 3141706
    [No Abstract]   [Full Text] [Related]  

  • 24. Early prenatal diagnosis of hereditary tyrosinaemia.
    Pettit BR; Kvittingen EA; Leonard JV
    Lancet; 1985 May; 1(8436):1038. PubMed ID: 2859481
    [No Abstract]   [Full Text] [Related]  

  • 25. Non-ketotic hyperglycinaemia: a therapeutic approach.
    Apostolidou I; Papagaroufalis C; Michelakakis H; Stephanidis CJ; Xanthou M
    J Inherit Metab Dis; 1991; 14(5):835-6. PubMed ID: 1779633
    [No Abstract]   [Full Text] [Related]  

  • 26. Non-ketotic hyperglycinaemia in a family with an unusual phenotype.
    Ando T; Nyhan WL; Bicknell J; Harris R; Stern J
    J Inherit Metab Dis; 1978; 1(3):79-83. PubMed ID: 116082
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prenatal diagnosis of pyruvate carboxylase deficiency.
    Robinson BH; Toone JR; Benedict RP; Dimmick JE; Oei J; Applegarth DA
    Prenat Diagn; 1985; 5(1):67-71. PubMed ID: 3919380
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.
    Kumps A; Vamos E; Mardens Y; Abramowicz M; Genin J; Duez P
    J Inherit Metab Dis; 2004; 27(5):567-79. PubMed ID: 15669672
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Citrullinemia: prenatal diagnosis of an affected fetus.
    Fleisher LD; Harris CJ; Mitchell DA; Nadler HL
    Am J Hum Genet; 1983 Jan; 35(1):85-90. PubMed ID: 6823975
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal detection of defects in propionate metabolism.
    Wendel U
    Clin Chim Acta; 1980 Dec; 108(3):475-7. PubMed ID: 7471478
    [No Abstract]   [Full Text] [Related]  

  • 31. Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.
    Tada K; Kure S
    J Inherit Metab Dis; 1993; 16(4):691-703. PubMed ID: 8412015
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine.
    Trefz FK; Schmidt H; Tauscher B; Depène E; Baumgartner R; Hammersen G; Kochen W
    Eur J Pediatr; 1981 Nov; 137(3):261-6. PubMed ID: 7318836
    [No Abstract]   [Full Text] [Related]  

  • 33. Prenatal diagnosis of inborn errors of metabolism.
    Matalon R
    Int J Gynaecol Obstet; 1976; 14(4):301-7. PubMed ID: 15886
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Evidence of defective threonine metabolism in non-ketotic hyperglycinaemia.
    Krieger I; Nigro M
    J Inherit Metab Dis; 1983; 6(1):40-3. PubMed ID: 6408308
    [No Abstract]   [Full Text] [Related]  

  • 35. Prenatal exclusion of the HHH syndrome.
    Gray RG; Green A; Hall S; McKeown C
    Prenat Diagn; 1995 May; 15(5):474-6. PubMed ID: 7644438
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neonatal and prenatal diagnosis of hereditary tyrosinaemia.
    King GS; MacKenzie F; Pettit BR
    Lancet; 1983 Jun; 1(8336):1279. PubMed ID: 6134070
    [No Abstract]   [Full Text] [Related]  

  • 37. A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid.
    Grenier A; Cederbaum S; Laberge C; Gagné R; Jakobs C; Tanguay RM
    Prenat Diagn; 1996 Mar; 16(3):239-42. PubMed ID: 8710777
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Attempt at antenatal diagnosis of argininosuccinic aciduria].
    Dhondt JL; Farriaux JP; Pollitt RJ; Vamos E; Richard P; Blanckaert D; Delecour M; Monnier JC; Fontaine G
    Ann Genet; 1976 Mar; 19(1):23-7. PubMed ID: 1084118
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Non-ketotic hyperglycinaemia presenting as pachygyria.
    Fletcher JM; Bye AM; Nayanar V; Wilcken B
    J Inherit Metab Dis; 1995; 18(6):665-8. PubMed ID: 8750602
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.
    Van Hove JL; Chace DH; Kahler SG; Millington DS
    J Inherit Metab Dis; 1993; 16(2):361-7. PubMed ID: 8411998
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.