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Journal Abstract Search

161 related items for PubMed ID: 6820422

  • 1. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
    DelValle JA, Merinero B, Jiménez A, García MJ, Ugarte M, Omeñaca F, Neustadt G, Quero J.
    J Inherit Metab Dis; 1982; 5(2):121-4. PubMed ID: 6820422
    [Abstract] [Full Text] [Related]

  • 2. Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
    Bergstrøm T, Greter J, Levin AH, Steen G, Tryding N, Wass U.
    Scand J Clin Lab Invest; 1981 Apr; 41(2):117-26. PubMed ID: 7313494
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  • 3. Propionic acidaemia presenting with pancytopaenia in infancy.
    Sweetman L, Nyhan WL, Cravens J, Zomer Y, Plunket DC.
    J Inherit Metab Dis; 1980 Apr; 2(3):65-9. PubMed ID: 6796762
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  • 4. Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
    Kuhara T, Shinka T, Matsuo M, Matsumoto I.
    Clin Chim Acta; 1982 Aug 04; 123(1-2):101-9. PubMed ID: 7116632
    [Abstract] [Full Text] [Related]

  • 5. Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
    Sweetman L, Bates SP, Hull D, Nyhan WL.
    Pediatr Res; 1977 Nov 04; 11(11):1144-7. PubMed ID: 917614
    [Abstract] [Full Text] [Related]

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  • 7. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
    Sweetman L, Weyler W, Nyhan WL, de Céspedes C, Loria AR, Estrada Y.
    Biomed Mass Spectrom; 1978 Mar 04; 5(3):198-207. PubMed ID: 630060
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  • 10. Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
    Przyrembel H, Bremer HJ, Duran M, Bruinvis L, Ketting D, Wadman SK, Baumgartner R, Irle U, Bachmann C.
    Eur J Pediatr; 1979 Jan 18; 130(1):1-14. PubMed ID: 759179
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  • 11. [Effects of propionic acid metabolic precursors in biotin-deprived rats].
    Cherruau B, Mangeot M, Demelier JF, Charpentier C, Pelletier C, Lemonnier A.
    Nutr Metab; 1980 Jan 18; 24(6):367-82. PubMed ID: 7219898
    [Abstract] [Full Text] [Related]

  • 12. [2-Methyl-3-oxovaleric acid: a characteristic metabolite in propionic acidemia].
    Lehnert W, Junker A.
    Clin Chim Acta; 1980 May 21; 104(1):47-51. PubMed ID: 7389125
    [Abstract] [Full Text] [Related]

  • 13. The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
    Wolf B, Raetz H.
    Clin Chim Acta; 1983 May 09; 130(1):25-30. PubMed ID: 6851181
    [Abstract] [Full Text] [Related]

  • 14. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
    Pérez-Cerdá C, Merinero B, Martí M, Cabrera JC, Peña L, García MJ, Gangoiti J, Sanz P, Rodríguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M.
    Eur J Pediatr; 1998 Jan 09; 157(1):50-2. PubMed ID: 9461363
    [Abstract] [Full Text] [Related]

  • 15. [Blood propionic acid with hyperammonemic coma].
    Stöckler S, Kastner U, Pokits B, Müller W, Roscher A.
    Klin Padiatr; 1987 Jan 09; 199(5):348-50. PubMed ID: 3682709
    [Abstract] [Full Text] [Related]

  • 16. Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
    Kuhara T, Inoue Y, Shinka T, Matsumoto I, Matsuo M.
    Biomed Mass Spectrom; 1983 Dec 09; 10(12):629-32. PubMed ID: 6200156
    [Abstract] [Full Text] [Related]

  • 17. High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
    Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M.
    Am J Hum Genet; 2000 Jul 09; 67(1):203-6. PubMed ID: 10820128
    [Abstract] [Full Text] [Related]

  • 18. An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.
    Ohura T, Narisawa K, Tada K, Iinuma K.
    J Inherit Metab Dis; 1999 Jun 09; 22(5):676-7. PubMed ID: 10399105
    [No Abstract] [Full Text] [Related]

  • 19. Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
    Pérez-Cerdá C, Rodríguez-Pombo P, Ugarte M.
    J Inherit Metab Dis; 1994 Jun 09; 17(6):661-3. PubMed ID: 7707688
    [No Abstract] [Full Text] [Related]

  • 20. Neurologic nonmetabolic presentation of propionic acidemia.
    Nyhan WL, Bay C, Beyer EW, Mazi M.
    Arch Neurol; 1999 Sep 09; 56(9):1143-7. PubMed ID: 10488817
    [Abstract] [Full Text] [Related]

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