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Volumn 10, Issue 5, 2010, Pages 429-432

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

Author keywords

Biogenic amines; Dopamine; Folate; Kearns Sayre syndrome; Mitochondrial diseases

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; BIOGENIC AMINE; HOMOVANILLIC ACID;

EID: 77955417913     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.04.001     Document Type: Article
Times cited : (49)

References (15)
  • 2
    • 0019981887 scopus 로고
    • Effect of folinic acid and vitamin B12 deficiencies on 5-hydroxyindoleacetic acid in human cerebrospinal fluid
    • Botez M.I., Young S.N., Bachevalier J., Gauthier S. Effect of folinic acid and vitamin B12 deficiencies on 5-hydroxyindoleacetic acid in human cerebrospinal fluid. Ann. Neurol. 1982, 12:479-484.
    • (1982) Ann. Neurol. , vol.12 , pp. 479-484
    • Botez, M.I.1    Young, S.N.2    Bachevalier, J.3    Gauthier, S.4
  • 5
    • 0023854165 scopus 로고
    • Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency
    • Hyland K., Smith I., Bottiglieri T., Perry J., Wendel U., Clayton P.T., Leonard J.V. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology 1988, 38:459-462.
    • (1988) Neurology , vol.38 , pp. 459-462
    • Hyland, K.1    Smith, I.2    Bottiglieri, T.3    Perry, J.4    Wendel, U.5    Clayton, P.T.6    Leonard, J.V.7
  • 6
    • 37349034239 scopus 로고    scopus 로고
    • Mitochondrial dysfunction, oxidative stress, regulation of exocytosis and their relevance to neurodegenerative diseases
    • Keating D.J. Mitochondrial dysfunction, oxidative stress, regulation of exocytosis and their relevance to neurodegenerative diseases. J. Neurochem. 2008, 104:298-305.
    • (2008) J. Neurochem. , vol.104 , pp. 298-305
    • Keating, D.J.1
  • 8
  • 10
    • 0018712317 scopus 로고
    • A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
    • Pearson H.A., Lobel J.S., Kocoshis S.A., Naiman J.L., Windmiller J., Lammi A.T., Hoffman R., Marsh J.C. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J. Pediatr. 1979, 95:976-984.
    • (1979) J. Pediatr. , vol.95 , pp. 976-984
    • Pearson, H.A.1    Lobel, J.S.2    Kocoshis, S.A.3    Naiman, J.L.4    Windmiller, J.5    Lammi, A.T.6    Hoffman, R.7    Marsh, J.C.8
  • 13
    • 0028232129 scopus 로고
    • Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine
    • Surtees R., Heales S., Bowron A. Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine. Clin. Sci. (Lond.) 1994, 86:697-702.
    • (1994) Clin. Sci. (Lond.) , vol.86 , pp. 697-702
    • Surtees, R.1    Heales, S.2    Bowron, A.3
  • 14
    • 0034283541 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: oncocytic transformation of choroids plexus epithelium
    • Tanji K., Schon E.A., DiMauro S., Bonilla E. Kearns-Sayre syndrome: oncocytic transformation of choroids plexus epithelium. J. Neurol. Sci. 2000, 178:29-36.
    • (2000) J. Neurol. Sci. , vol.178 , pp. 29-36
    • Tanji, K.1    Schon, E.A.2    DiMauro, S.3    Bonilla, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.