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Journal Abstract Search

416 related items for PubMed ID: 11738016

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

  • 2. [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]

  • 3. 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; 9(1):22-30. PubMed ID: 8139602
    [Abstract] [Full Text] [Related]

  • 4. [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 Jan; 205(1):23-9. PubMed ID: 8445849
    [Abstract] [Full Text] [Related]

  • 5. [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]

  • 6. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
    Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E.
    Neuropediatrics; 1996 Jun; 27(3):115-23. PubMed ID: 8837070
    [Abstract] [Full Text] [Related]

  • 7. [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 Jun; 26(2):97-101. PubMed ID: 1945471
    [Abstract] [Full Text] [Related]

  • 8. Atypical and variable clinical presentation of glutaric aciduria type I.
    Zafeiriou DI, Zschocke J, Augoustidou-Savvopoulou P, Mauromatis I, Sewell A, Kontopoulos E, Katzos G, Hoffmann GF.
    Neuropediatrics; 2000 Dec; 31(6):303-6. PubMed ID: 11508549
    [Abstract] [Full Text] [Related]

  • 9. [Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].
    Pascual-Castroviejo I, Pascual-Pascual SI, Merinero B, Ugarte M, Garcia-Segura JM, Viaño J, Velazquez R.
    Neurologia; 2005 May; 20(4):189-93. PubMed ID: 15891948
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].
    Martínez Granero MA, Garcia Pérez A, Martínez-Pardo M, Parra E.
    Neurologia; 2005 Jun; 20(5):255-60. PubMed ID: 15954035
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. [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 Oct 01; 9(7):303-6. PubMed ID: 7946428
    [Abstract] [Full Text] [Related]

  • 14. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.
    Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lönnquist T, Skov L, Rotwelt T, von Döbeln U.
    Eur J Paediatr Neurol; 2004 Oct 01; 8(3):121-9. PubMed ID: 15120683
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 66(3):199-204. PubMed ID: 10066389
    [Abstract] [Full Text] [Related]

  • 16. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
    Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S.
    Brain; 2009 Jul 01; 132(Pt 7):1764-82. PubMed ID: 19433437
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

  • 18. Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.
    Herskovitz M, Goldsher D, Sela BA, Mandel H.
    Neurology; 2013 Aug 27; 81(9):849-50. PubMed ID: 23884036
    [Abstract] [Full Text] [Related]

  • 19. [Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)].
    Hayasaka K, Ikeda H.
    Ryoikibetsu Shokogun Shirizu; 1998 Aug 27; (18 Pt 1):332-5. PubMed ID: 9590060
    [No Abstract] [Full Text] [Related]

  • 20. Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
    Christensen E, Kølvraa S, Gregersen N.
    Pediatr Res; 1984 Jul 27; 18(7):663-7. PubMed ID: 6433313
    [Abstract] [Full Text] [Related]

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