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 *

125 related articles for article (PubMed ID: 117238)

  • 1. Prenatal diagnosis and a case report of isovaleric acidaemia.
    Blaskovics ME; Ng WG; Donnell GN
    J Inherit Metab Dis; 1978; 1(1):9-11. PubMed ID: 117238
    [No Abstract]   [Full Text] [Related]  

  • 2. Diagnosis of isovaleric acidemia in cultured fibroblasts.
    Shih VE; Mandell R; Tanaka K
    Clin Chim Acta; 1973 Nov; 48(4):437-9. PubMed ID: 4761592
    [No Abstract]   [Full Text] [Related]  

  • 3. Acute neonatal isovaleric acidemia. A report of two cases.
    Spirer Z; Swirsky-Fein S; Zakut V; Legum C; Bogair N; Charles R; Gil-Av E
    Isr J Med Sci; 1975 Oct; 11(10):1005-10. PubMed ID: 1193830
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Inborn errors of organic acid metabolism.
    Gompertz D
    Clin Endocrinol Metab; 1974 Mar; 3(1):107-30. PubMed ID: 4609643
    [No Abstract]   [Full Text] [Related]  

  • 6. A new case of prenatal diagnosis of isovaleric acidaemia.
    Dumoulin R; Divry P; Mandon G; Mathieu M
    Prenat Diagn; 1991 Dec; 11(12):921-2. PubMed ID: 1805197
    [No Abstract]   [Full Text] [Related]  

  • 7. [Isovaleric acidemia and beta-hydroxyisovaleric aciduria].
    Hidaka T
    Nihon Rinsho; 1978 May; Suppl():1360-1. PubMed ID: 691355
    [No Abstract]   [Full Text] [Related]  

  • 8. Isovaleric acidemia.
    Can Med Assoc J; 1967 Nov; 97(20):1230-1. PubMed ID: 6058164
    [No Abstract]   [Full Text] [Related]  

  • 9. [Isovaleric acidemia. Study and treatment in 3 brothers].
    Saudubray JM; Sorin M; Depondt E; Herouin C; Charpentier C; Pousset JL
    Arch Fr Pediatr; 1976 Oct; 33(8):795-808. PubMed ID: 985038
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Isovaleric acidemia.
    Efron ML
    Am J Dis Child; 1967 Jan; 113(1):74-6. PubMed ID: 6015910
    [No Abstract]   [Full Text] [Related]  

  • 11. Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.
    Tanaka K; Mandell R; Shih VE
    J Clin Invest; 1976 Jul; 58(1):164-72. PubMed ID: 932204
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Isovaleric aciduria].
    Hyánek J; Zapadlo M; Zeman J; Houstková H; Rubín A; Duran M; Wadman SK; Pĕtová J; Pisacka M; Kozich V
    Cas Lek Cesk; 1983 Sep; 122(35):1082-4. PubMed ID: 6627324
    [No Abstract]   [Full Text] [Related]  

  • 13. Endogenous catabolism as source of toxic metabolites in isovaleric acidemia.
    Pollitt RJ
    J Pediatr; 1987 Sep; 111(3):477-8. PubMed ID: 3625423
    [No Abstract]   [Full Text] [Related]  

  • 14. Isovaleric acidemia: a new genetic defect of leucine metabolism.
    Tanaka K; Budd MA; Efron ML; Isselbacher KJ
    Proc Natl Acad Sci U S A; 1966 Jul; 56(1):236-42. PubMed ID: 5229850
    [No Abstract]   [Full Text] [Related]  

  • 15. Isovaleric acidaemia in two South African children.
    Malan C; Neethling AC; Shanley BC; Gompertz D; Bartlett K; Schraader EB
    S Afr Med J; 1977 Jun; 51(26):980-3. PubMed ID: 888034
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Isovaleric acidemia].
    Rasmussen K
    Ugeskr Laeger; 1979 Nov; 141(48):3311. PubMed ID: 531978
    [No Abstract]   [Full Text] [Related]  

  • 17. Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia.
    Millington DS; Roe CR; Maltby DA; Inoue F
    J Pediatr; 1987 Jan; 110(1):56-60. PubMed ID: 3794887
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia.
    Hine DG; Hack AM; Goodman SI; Tanaka K
    Pediatr Res; 1986 Mar; 20(3):222-6. PubMed ID: 3703611
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.
    Duran M; Bruinvis L; Ketting D; Wadman SK; van Pelt BC; Batenburg-Plenter AM
    J Inherit Metab Dis; 1982; 5(2):125-7. PubMed ID: 6820423
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Neonatal form of isovaleric acidemia. Apropos of a new case].
    Beauvais P; Peter MO; Barbier B
    Arch Fr Pediatr; 1985; 42(7):531-3. PubMed ID: 4083972
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.