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Journal Abstract Search

133 related items for PubMed ID: 7241536

  • 1. Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
    Harris DJ, Thompson RM, Wolf B, Yang BI.
    J Med Genet; 1981 Apr; 18(2):156-7. PubMed ID: 7241536
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.
    Scholl-Bürgi S, Korman SH, Applegarth DA, Karall D, Lillquist Y, Heinz-Erian P, Davidson AG, Haberlandt E, Sass JO.
    J Inherit Metab Dis; 2008 Jun; 31(3):395-8. PubMed ID: 18392751
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
    Chadefaux B, Augereau C, Rabier D, Rocchiccioli F, Boué J, Oury JF, Kamoun P.
    Prenat Diagn; 1988 Feb; 8(2):161-4. PubMed ID: 3362779
    [Abstract] [Full Text] [Related]

  • 6. Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
    Del Valle JA, Merinero B, Garciá MJ, Ugarte M, Omeñaca F, Neustadt G.
    J Inherit Metab Dis; 1980 Feb; 3(3):93. PubMed ID: 6775147
    [No Abstract] [Full Text] [Related]

  • 7. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin.
    Sweetman L, Surh L, Baker H, Peterson RM, Nyhan WL.
    Pediatrics; 1981 Oct; 68(4):553-8. PubMed ID: 7322688
    [Abstract] [Full Text] [Related]

  • 8. Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
    Wadlington WB, Kilroy A, Ando T, Sweetman L, Nyhan WL.
    J Pediatr; 1975 May; 86(5):707-12. PubMed ID: 1133651
    [Abstract] [Full Text] [Related]

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

  • 10. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
    Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL.
    Pediatrics; 1981 Jul; 68(1):113-8. PubMed ID: 6787561
    [Abstract] [Full Text] [Related]

  • 11. Non-ketotic hyperglycinaemia in a neonate. A case report.
    De Ravel TJ, Smith CE, Scher LG, Davies VA, Rothberg AD.
    S Afr Med J; 1991 Aug 17; 80(4):201-2. PubMed ID: 1876959
    [Abstract] [Full Text] [Related]

  • 12. Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
    Munnich A, Saudubray JM, Coude FX, Charpentier C, Saurat JH, Frezal J.
    Lancet; 1980 May 17; 1(8177):1080-1. PubMed ID: 6103410
    [No Abstract] [Full Text] [Related]

  • 13. 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 17; 10(12):629-32. PubMed ID: 6200156
    [Abstract] [Full Text] [Related]

  • 14. [Molecular pathology of the hyperglycinemias].
    Benavides J, Ugarte M.
    Rev Esp Fisiol; 1982 Dec 17; 38 Suppl():199-205. PubMed ID: 6128772
    [Abstract] [Full Text] [Related]

  • 15. Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: minor metabolic products of the citrate synthase aldol condensation reaction.
    van Rooyen JP, Mienie LJ, Erasmus E, de Wet WJ, Duran M, Wadman SK.
    Clin Chim Acta; 1994 Oct 14; 230(1):91-9. PubMed ID: 7850997
    [Abstract] [Full Text] [Related]

  • 16. 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 Oct 14; 5(2):121-4. PubMed ID: 6820422
    [Abstract] [Full Text] [Related]

  • 17. Biotin-reversible neurodegenerative disease in infancy.
    Low LC, Stephenson JB, Bartlett K, Seakins JW, Shaikh SA.
    Aust Paediatr J; 1986 Feb 14; 22(1):65-8. PubMed ID: 3087340
    [Abstract] [Full Text] [Related]

  • 18. Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases).
    Gravel RA, Robinson BH.
    Ann N Y Acad Sci; 1985 Feb 14; 447():225-34. PubMed ID: 3925855
    [No Abstract] [Full Text] [Related]

  • 19. Metabolic abnormalities observed in the rat after administration of sodium dipropylacetate.
    Cherruau B, Mangeot M, Demelier JF, Charpentier C, Pelletier C, Lemonnier A.
    Toxicol Lett; 1981 Apr 14; 8(1-2):39-42. PubMed ID: 6787743
    [Abstract] [Full Text] [Related]

  • 20. Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
    Revsin B, Lebowitz J, Morrow G.
    Pediatr Res; 1977 Jun 14; 11(6):749-53. PubMed ID: 17092
    [Abstract] [Full Text] [Related]

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