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Journal Abstract Search

195 related items for PubMed ID: 10222465

  • 1.
    ; . PubMed ID:
    [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. 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
    [Abstract] [Full Text] [Related]

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

  • 5. [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]

  • 6. 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]

  • 7. 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]

  • 8. [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
    [Abstract] [Full Text] [Related]

  • 9. [Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria].
    Plöchl E, Christensen E, Colombo JP, Weiss-Wichert P, Wenger E.
    Padiatr Padol; 1991 Nov; 26(2):97-101. PubMed ID: 1945471
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I.
    Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, Yamaguchi S, Ohura T, Hayasaka K.
    Am J Med Genet; 1998 Dec 04; 80(4):327-9. PubMed ID: 9856558
    [Abstract] [Full Text] [Related]

  • 11. [Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)].
    Lawrenz-Wolf B, Herberg KP, Hoffmann GF, Hunneman DH, Lehnert W, Hanefeld F.
    Klin Padiatr; 1993 Dec 04; 205(1):23-9. PubMed ID: 8445849
    [Abstract] [Full Text] [Related]

  • 12. Glutaric aciduria type I presenting with hypoglycaemia.
    Dunger DB, Snodgrass GJ.
    J Inherit Metab Dis; 1984 Dec 04; 7(3):122-4. PubMed ID: 6438395
    [Abstract] [Full Text] [Related]

  • 13. Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.
    Busquets C, Coll MJ, Merinero B, Ugarte M, Ruiz MA, Martinez Bermejo A, Ribes A.
    Prenat Diagn; 2000 Sep 04; 20(9):761-4. PubMed ID: 11015709
    [Abstract] [Full Text] [Related]

  • 14. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.
    Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Döbeln U, Fossen A, Carlsson G.
    Mov Disord; 1994 Jan 04; 9(1):22-30. PubMed ID: 8139602
    [Abstract] [Full Text] [Related]

  • 15. Subdural hematomas and glutaric aciduria type I.
    Bodamer O.
    Pediatrics; 2001 Feb 04; 107(2):451. PubMed ID: 11246642
    [No Abstract] [Full Text] [Related]

  • 16. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
    Busquets C, Soriano M, de Almeida IT, Garavaglia B, Rimoldi M, Rivera I, Uziel G, Cabral A, Coll MJ, Ribes A.
    Mol Genet Metab; 2000 Nov 04; 71(3):535-7. PubMed ID: 11073722
    [Abstract] [Full Text] [Related]

  • 17. [Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria].
    Martínez Bermejo A, Pascual Castroviejo I, Merinero B, Campos Y, López Martín V, Arcas J, Gutiérrez Molina M, Arenas J.
    Neurologia; 1994 Nov 04; 9(7):303-6. PubMed ID: 7946428
    [Abstract] [Full Text] [Related]

  • 18. Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.
    Christensen E.
    J Inherit Metab Dis; 1984 Nov 04; 7 Suppl 2():103-4. PubMed ID: 6434855
    [No Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. [Glutaric aciduria type I: diagnosis in adulthood and phenotypic variability].
    Corral I, Martínez Castrillo JC, Martínez-Pardo M, Gimeno A.
    Neurologia; 2001 Oct 01; 16(8):377-80. PubMed ID: 11738016
    [Abstract] [Full Text] [Related]

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