BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

462 related articles for article (PubMed ID: 8139602)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. [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; 205(1):23-9. PubMed ID: 8445849
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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]  

  • 8. Glutaric aciduria type 1: an underdiagnosed cause of encephalopathy and dystonia-dyskinesia syndrome in children.
    Hauser SE; Peters H
    J Paediatr Child Health; 1998 Jun; 34(3):302-4. PubMed ID: 9633984
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 41(1):89-95. PubMed ID: 1951469
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 8(3):121-9. PubMed ID: 15120683
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intermittently progressive dyskinetic syndrome in glutaric aciduria.
    Kyllerman M; Steen G
    Neuropadiatrie; 1977 Nov; 8(4):397-404. PubMed ID: 579437
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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; 9(7):303-6. PubMed ID: 7946428
    [TBL] [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; 2007 May 16-31; 44(10):610-5. PubMed ID: 17523120
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Acute profound dystonia in infants with glutaric acidemia.
    Bergman I; Finegold D; Gartner JC; Zitelli BJ; Claassen D; Scarano J; Roe CR; Stanley C; Goodman SI
    Pediatrics; 1989 Feb; 83(2):228-34. PubMed ID: 2643800
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Type 1 glutaric aciduria: clinical and therapeutic implications].
    Jiménez Caballero PE; Marsal Alonso C
    Neurologia; 2007 Jun; 22(5):329-32. PubMed ID: 17508309
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
    Hoffmann GF; Trefz FK; Barth PG; Böhles HJ; Biggemann B; Bremer HJ; Christensen E; Frosch M; Hanefeld F; Hunneman DH
    Pediatrics; 1991 Dec; 88(6):1194-203. PubMed ID: 1956737
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 80(4):327-9. PubMed ID: 9856558
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.