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Journal Abstract Search

346 related items for PubMed ID: 1775140

  • 1. [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]

  • 2. 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]

  • 3. [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]

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

  • 5. 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]

  • 6. [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]

  • 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. [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. 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; 8(3):121-9. PubMed ID: 15120683
    [Abstract] [Full Text] [Related]

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

  • 11. 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]

  • 12. 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 04; 18(7):663-7. PubMed ID: 6433313
    [Abstract] [Full Text] [Related]

  • 13. 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 04; 31(6):303-6. PubMed ID: 11508549
    [Abstract] [Full Text] [Related]

  • 14. 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 04; 26(5):238-42. PubMed ID: 8552212
    [Abstract] [Full Text] [Related]

  • 15. Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.
    Höliner I, Simma B, Reiter A, Sass JO, Zschocke J, Huemer M.
    Klin Padiatr; 2010 Oct 04; 222(1):35-7. PubMed ID: 20084589
    [Abstract] [Full Text] [Related]

  • 16. [Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].
    Mahfoud A, Domínguez CL, Rizzo C, García-Villoria J, Navarro-Sastre A, Ribes A.
    Rev Neurol; 2010 Oct 04; 44(10):610-5. PubMed ID: 17523120
    [Abstract] [Full Text] [Related]

  • 17. [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 04; 20(5):255-60. PubMed ID: 15954035
    [Abstract] [Full Text] [Related]

  • 18. CT-scan findings in an infant with glutaric aciduria type I.
    Yager JY, McClarty BM, Seshia SS.
    Dev Med Child Neurol; 1988 Dec 04; 30(6):808-11. PubMed ID: 3069526
    [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. 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 Oct 01; 12(3):141-4. PubMed ID: 9711871
    [Abstract] [Full Text] [Related]

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