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Volumn 27, Issue 2, 2002, Pages 141-144

L-2-hydroxyglutaric aciduria in two siblings

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

EID: 0036696946     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(02)00405-8     Document Type: Article
Times cited : (20)

References (15)
  • 2
    • 0026775751 scopus 로고
    • L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease
    • Barth P.G., Hoffmann G.F., Jaeken J., et al. L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol. 32:1992;66-71
    • (1992) Ann Neurol , vol.32 , pp. 66-71
    • Barth, P.G.1    Hoffmann, G.F.2    Jaeken, J.3
  • 3
    • 0029831021 scopus 로고    scopus 로고
    • Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: Report of three cases in comparison with Canavan disease
    • Topçu M., Erdem G., Saatçi I., et al. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: Report of three cases in comparison with Canavan disease. J Child Neurol. 11:1996;373-377
    • (1996) J Child Neurol , vol.11 , pp. 373-377
    • Topçu, M.1    Erdem, G.2    Saatçi, I.3
  • 6
    • 0032977991 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Two Japanese adult cases in one family
    • Fujitake J., Ishikawa Y., Fujii H., et al. L-2-Hydroxyglutaric aciduria: Two Japanese adult cases in one family. J Neurol. 246:1999;378-382
    • (1999) J Neurol , vol.246 , pp. 378-382
    • Fujitake, J.1    Ishikawa, Y.2    Fujii, H.3
  • 7
    • 0027255269 scopus 로고
    • L-2-Hydroxyglutaric acidemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
    • Barth P.G., Hoffmann G.F., Jaeken J., et al. L-2-Hydroxyglutaric acidemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inher Metab Dis. 16:1993;753-761
    • (1993) J Inher Metab Dis , vol.16 , pp. 753-761
    • Barth, P.G.1    Hoffmann, G.F.2    Jaeken, J.3
  • 8
    • 0030005506 scopus 로고    scopus 로고
    • Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy
    • Diogo L., Fineza I., Canha J., Borges L., Cardosos M.L., Vilarinho L. Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy. J Inher Metab Dis. 19:1996;369-370
    • (1996) J Inher Metab Dis , vol.19 , pp. 369-370
    • Diogo, L.1    Fineza, I.2    Canha, J.3    Borges, L.4    Cardosos, M.L.5    Vilarinho, L.6
  • 9
    • 0034166491 scopus 로고    scopus 로고
    • Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria
    • Moroni I., D'Incerti L., Farina L., Rimoldi M., Uziel G. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci. 21:2000;103-108
    • (2000) Neurol Sci , vol.21 , pp. 103-108
    • Moroni, I.1    D'Incerti, L.2    Farina, L.3    Rimoldi, M.4    Uziel, G.5
  • 10
    • 0027279451 scopus 로고
    • Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
    • Gibson K.M., ten Brink H.J., Schor D.S.M., et al. Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: Application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 34:1993;277-280
    • (1993) Pediatr Res , vol.34 , pp. 277-280
    • Gibson, K.M.1    Ten Brink, H.J.2    Schor, D.S.M.3
  • 11
    • 0003085579 scopus 로고    scopus 로고
    • Early infantile progressive metabolic encephalopathies: Clinical problems and diagnostic considerations
    • G. Lyon, R.D. Adams, & E.H. Kolodny. New York: McGraw-Hill
    • Lyon G., Adams R.D., Kolodny E.H. Early infantile progressive metabolic encephalopathies: Clinical problems and diagnostic considerations. Lyon G. Adams R.D. Kolodny E.H. Neurology of hereditary metabolic diseases of children. 2nd ed. 1996;45-143 McGraw-Hill New York
    • (1996) Neurology of hereditary metabolic diseases of children 2nd ed. , pp. 45-143
    • Lyon, G.1    Adams, R.D.2    Kolodny, E.H.3
  • 12
    • 0028147725 scopus 로고
    • Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria
    • Larnaout A., Hentati F., Belal S., Hamida C.B., Kaabachi N., Hamida M.B. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol. 88:1994;367-370
    • (1994) Acta Neuropathol , vol.88 , pp. 367-370
    • Larnaout, A.1    Hentati, F.2    Belal, S.3    Hamida, C.B.4    Kaabachi, N.5    Hamida, M.B.6
  • 13
    • 0028273715 scopus 로고
    • In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric academia
    • Hanefeld F., Kruse B., Bruhn H., Frahm J. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric academia. Pediatr Res. 35:1994;614-616
    • (1994) Pediatr Res , vol.35 , pp. 614-616
    • Hanefeld, F.1    Kruse, B.2    Bruhn, H.3    Frahm, J.4
  • 14
    • 0029040708 scopus 로고
    • Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria
    • Hoffmann G.F., Jakobs C., Holmes B., et al. Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria. J Inher Metab Dis. 18:1995;189-193
    • (1995) J Inher Metab Dis , vol.18 , pp. 189-193
    • Hoffmann, G.F.1    Jakobs, C.2    Holmes, B.3
  • 15
    • 0030804441 scopus 로고    scopus 로고
    • L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients
    • Wanders R.J.A., Vilarinho L., Hartung H.P., et al. L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients. J Inher Metab Dis. 20:1997;725-726
    • (1997) J Inher Metab Dis , vol.20 , pp. 725-726
    • Wanders, R.J.A.1    Vilarinho, L.2    Hartung, H.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.