BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

110 related articles for article (PubMed ID: 8214328)

  • 1. Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder.
    Nielsen JB; Toft PB; Reske-Nielsen E; Jensen KE; Christiansen P; Thomsen C; Henriksen O; Lou HC
    Brain Dev; 1993; 15(2):107-12. PubMed ID: 8214328
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.
    Dotti MT; Manneschi L; Malandrini A; De Stefano N; Caznerale F; Federico A
    Brain Dev; 1993; 15(2):103-6. PubMed ID: 8214327
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.
    Shevell MI; Matthews PM; Scriver CR; Brown RM; Otero LJ; Legris M; Brown GK; Arnold DL
    Pediatr Neurol; 1994 Oct; 11(3):224-9. PubMed ID: 7880337
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders.
    Cross JH; Gadian DG; Connelly A; Leonard JV
    J Inherit Metab Dis; 1993; 16(4):800-11. PubMed ID: 8412023
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A boy with the Rett syndrome?
    Eeg-Olofsson O; al-Zuhair AG; Teebi AS; Zaki M; Daoud AS
    Brain Dev; 1990; 12(5):529-32. PubMed ID: 2288387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835.
    Cardaioli E; Dotti MT; Hayek G; Zappella M; Federico A
    J Submicrosc Cytol Pathol; 1999 Apr; 31(2):301-4. PubMed ID: 10457616
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rett syndrome: a mitochondrial disease?
    Eeg-Olofsson O; al-Zuhair AG; Teebi AS; Daoud AS; Zaki M; Besisso MS; Al-Essa MM
    J Child Neurol; 1990 Jul; 5(3):210-4. PubMed ID: 2168910
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis.
    Dotti MT; Manneschi L; Federico A
    J Neurol Sci; 1995 Apr; 129(2):106-8. PubMed ID: 7608723
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
    Harada M; Tanouchi M; Arai K; Nishitani H; Miyoshi H; Hashimoto T
    Magn Reson Imaging; 1996; 14(1):129-33. PubMed ID: 8656986
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.
    Prick MJ; Gabreëls FJ; Trijbels JM; Janssen AJ; le Coultre R; van Dam K; Jaspar HH; Ebels EJ; Op de Coul AA
    Clin Neurol Neurosurg; 1983; 85(1):57-70. PubMed ID: 6303665
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial alterations in Rett syndrome.
    Ruch A; Kurczynski TW; Velasco ME
    Pediatr Neurol; 1989; 5(5):320-3. PubMed ID: 2803392
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.
    Agsteribbe E; Huckriede A; Veenhuis M; Ruiters MH; Niezen-Koning KE; Skjeldal OH; Skullerud K; Gupta RS; Hallberg R; van Diggelen OP
    Biochem Biophys Res Commun; 1993 May; 193(1):146-54. PubMed ID: 8503901
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Proton magnetic resonance spectroscopy of the brain in three cases of Rett syndrome: comparison with autism and normal controls.
    Hashimoto T; Kawano N; Fukuda K; Endo S; Mori K; Yoneda Y; Yamaue T; Harada M; Miyoshi K
    Acta Neurol Scand; 1998 Jul; 98(1):8-14. PubMed ID: 9696521
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Rett syndrome and CSF lactic acid patterns.
    Matsuishi T; Urabe F; Komori H; Yamashita Y; Naito E; Kuroda Y; Horikawa M; Ohtaki E
    Brain Dev; 1992 Jan; 14(1):68-70. PubMed ID: 1590531
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Brain MRI and proton MRS findings in infants and children with respiratory chain defects.
    Dinopoulos A; Cecil KM; Schapiro MB; Papadimitriou A; Hadjigeorgiou GM; Wong B; deGrauw T; Egelhoff JC
    Neuropediatrics; 2005 Oct; 36(5):290-301. PubMed ID: 16217703
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
    Van Erven PM; Gabreëls FJ; Ruitenbeek W; Den Hartog MR; Fischer JC; Renier WO; Trijbels JM; Slooff JL; Janssen AJ
    Acta Neurol Scand; 1985 Jul; 72(1):36-42. PubMed ID: 4050316
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Effects of dichloroacetate on the lactate/pyruvate ratio and on aspartate and leucine metabolism in cultured rat skeletal muscle cells.
    Pardridge WM; Duducgian-Vartavarian L; Casanello-Ertl D
    Biochem Pharmacol; 1983 Jan; 32(1):97-100. PubMed ID: 6403018
    [No Abstract]   [Full Text] [Related]  

  • 18. Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla.
    Pan JW; Lane JB; Hetherington H; Percy AK
    J Child Neurol; 1999 Aug; 14(8):524-8. PubMed ID: 10456763
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial abnormalities in choroid plexus of Leigh disease.
    Ohama E; Ikuta F; Nakamura N
    Brain Dev; 1988; 10(1):30-5. PubMed ID: 3285724
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Oxidative metabolism in Rett syndrome: 1. Clinical studies.
    Haas RH; Light M; Rice M; Barshop BA
    Neuropediatrics; 1995 Apr; 26(2):90-4. PubMed ID: 7566464
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.