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Journal Abstract Search

200 related items for PubMed ID: 11462353

  • 1. [Aciduria, glutaric (type 1)].
    Yamaguchi S.
    Ryoikibetsu Shokogun Shirizu; 2001; (33):106-7. PubMed ID: 11462353
    [No Abstract] [Full Text] [Related]

  • 2. [Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)].
    Hayasaka K, Ikeda H.
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):332-5. PubMed ID: 9590060
    [No Abstract] [Full Text] [Related]

  • 3. Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I.
    Hauser SE, Boneh A.
    Neuropediatrics; 1999 Feb; 30(1):51-2. PubMed ID: 10222465
    [No Abstract] [Full Text] [Related]

  • 4. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
    Kölker S, Ramaekers VT, Zschocke J, Hoffmann GF.
    J Pediatr; 2001 Feb; 138(2):277-9. PubMed ID: 11174631
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  • 6. Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
    Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman S.
    Mol Genet Metab; 1999 Mar; 66(3):199-204. PubMed ID: 10066389
    [Abstract] [Full Text] [Related]

  • 7. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
    Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON.
    Hum Mutat; 1998 Mar; 12(3):141-4. PubMed ID: 9711871
    [Abstract] [Full Text] [Related]

  • 8. [Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders].
    Prats Viñas J.
    Neurologia; 2001 Oct; 16(8):337-41. PubMed ID: 11738010
    [No Abstract] [Full Text] [Related]

  • 9. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.
    Merinero B, Pérez-Cerdá C, Font LM, Garcia MJ, Aparicio M, Lorenzo G, Martinez Pardo M, Garzo C, Martinez-Bermejo A, Pascual Castroviejo I.
    Neuropediatrics; 1995 Oct; 26(5):238-42. PubMed ID: 8552212
    [Abstract] [Full Text] [Related]

  • 10. First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1).
    Christensen E.
    J Inherit Metab Dis; 1989 Oct; 12 Suppl 2():277-9. PubMed ID: 2512425
    [No Abstract] [Full Text] [Related]

  • 11. [Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)].
    Trefz FK, Hoffmann GF, Mayatepek E, Lichter-Konecki U, Weisser J, Otten A, Wendel U, Rating D, Bremer HJ.
    Monatsschr Kinderheilkd; 1991 Nov; 139(11):754-8. PubMed ID: 1775140
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  • 14. Prenatal diagnosis of glutaric acidemias.
    Goodman SI.
    Prenat Diagn; 2001 Dec; 21(13):1167-8. PubMed ID: 11787045
    [No Abstract] [Full Text] [Related]

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  • 16. Glutaric aciduria type I presenting with hypoglycaemia.
    Dunger DB, Snodgrass GJ.
    J Inherit Metab Dis; 1984 Dec; 7(3):122-4. PubMed ID: 6438395
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  • 19. Subdural hematomas and glutaric aciduria type I.
    Bodamer O.
    Pediatrics; 2001 Feb; 107(2):451. PubMed ID: 11246642
    [No Abstract] [Full Text] [Related]

  • 20. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
    Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI.
    Am J Med Genet; 1991 Oct 01; 41(1):89-95. PubMed ID: 1951469
    [Abstract] [Full Text] [Related]

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