메뉴 건너뛰기




Volumn 27, Issue 6, 2004, Pages 893-902

Emergency treatment in glutaryl-CoA dehydrogenase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTICONVULSIVE AGENT; ANTIEMETIC AGENT; ANTIPYRETIC AGENT; BICARBONATE; CARNITINE; DIURETIC AGENT; ELECTROLYTE; FUROSEMIDE; GLUCOSE; GLUTARYL COENZYME A DEHYDROGENASE; INSULIN; LIPID; LYSINE; MALTODEXTRIN; ONDANSETRON; PHENOBARBITAL; PHENYTOIN; RIBOFLAVIN; VACCINE;

EID: 7244240722     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045774.51260.ea     Document Type: Review
Times cited : (20)

References (28)
  • 1
    • 0033730391 scopus 로고    scopus 로고
    • Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type I
    • Bjugstad KB, Goodman SI, Freed CR (2000) Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type I. J Pediatr 137: 681-686.
    • (2000) J. Pediatr. , vol.137 , pp. 681-686
    • Bjugstad, K.B.1    Goodman, S.I.2    Freed, C.R.3
  • 2
    • 0030824750 scopus 로고    scopus 로고
    • Assessment of energy expenditure in metabolic disorders
    • Bodamer OA, Hoffmann GF, Visser GH, et al (1997) Assessment of energy expenditure in metabolic disorders. Eur J Pediatr 156 (supplement 1): S24-28.
    • (1997) Eur. J. Pediatr. , vol.156 , Issue.SUPPL. 1
    • Bodamer, O.A.1    Hoffmann, G.F.2    Visser, G.H.3
  • 3
    • 0028964466 scopus 로고
    • CT and MR of the brain in glutaric aciduria type I: A review of 59 published cases and a report of 5 new patients
    • Brismar J, Ozand PT (1995) CT and MR of the brain in glutaric aciduria type I: A review of 59 published cases and a report of 5 new patients. Am J Neuroradiol 16: 675-683.
    • (1995) Am. J. Neuroradiol. , vol.16 , pp. 675-683
    • Brismar, J.1    Ozand, P.T.2
  • 4
    • 0033875134 scopus 로고    scopus 로고
    • Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct
    • Busquets C, Merinero B, Christensen E, et al (2000) Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48: 315-322.
    • (2000) Pediatr. Res. , vol.48 , pp. 315-322
    • Busquets, C.1    Merinero, B.2    Christensen, E.3
  • 5
    • 7244230344 scopus 로고    scopus 로고
    • D-A-CH (Deutsche Gesellschaft für Ernährung, Österreichische Gesellschaft für Ernährung, Schweizerische Gesellschaft für Ernährungsforschung, Schweizerische Vereinigung für Ernährung)
    • Frankfurt: Umschau/Braus
    • D-A-CH (Deutsche Gesellschaft für Ernährung, Österreichische Gesellschaft für Ernährung, Schweizerische Gesellschaft für Ernährungsforschung, Schweizerische Vereinigung für Ernährung) (2000) Referenzwerte für die Nährstoffzufuhr. Frankfurt: Umschau/Braus.
    • (2000) Referenzwerte für Die Nährstoffzufuhr
  • 7
    • 0346095333 scopus 로고    scopus 로고
    • Glutaric aciduria type I. Value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis
    • Elster AW (2004) Glutaric aciduria type I. Value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis. J Comput Assist Tomogr 28: 98-100.
    • (2004) J. Comput. Assist. Tomogr. , vol.28 , pp. 98-100
    • Elster, A.W.1
  • 9
    • 18544381916 scopus 로고    scopus 로고
    • Outcome of the first three years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and Northwestern Ontario, Canada
    • Greenberg CR, Prasad AN, Dilling LA, et al (2002) Outcome of the first three years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and Northwestern Ontario, Canada. Mol Gen Metabol 75: 70-78.
    • (2002) Mol. Gen. Metabol. , vol.75 , pp. 70-78
    • Greenberg, C.R.1    Prasad, A.N.2    Dilling, L.A.3
  • 10
    • 8944233364 scopus 로고    scopus 로고
    • Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
    • Hoffmann GF, Athanassopoulos S, Burlina AB, et al (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27: 115-123.
    • (1996) Neuropediatrics , vol.27 , pp. 115-123
    • Hoffmann, G.F.1    Athanassopoulos, S.2    Burlina, A.B.3
  • 12
    • 7244234276 scopus 로고    scopus 로고
    • Animal models for glutaryl-CoA dehydrogenase deficiency
    • Koeller DM, Sauer S, Wajner M, et al (2004) Animal models for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27 813-818.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 813-818
    • Koeller, D.M.1    Sauer, S.2    Wajner, M.3
  • 13
    • 10744221377 scopus 로고    scopus 로고
    • Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain
    • Kölker S, Schwab MA, Hörster F, et al (2003) Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem 278: 47388-47393.
    • (2003) J. Biol. Chem. , vol.278 , pp. 47388-47393
    • Kölker, S.1    Schwab, M.A.2    Hörster, F.3
  • 14
    • 7244221531 scopus 로고    scopus 로고
    • Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency
    • Kölker S, Koeller DM, Sauer S, et al (2004) Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27: 805-812.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 805-812
    • Kölker, S.1    Koeller, D.M.2    Sauer, S.3
  • 15
    • 2442646639 scopus 로고    scopus 로고
    • Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
    • Kyllerman M, Skjeldal O, Christensen E, et al (2004) Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neural 8: 121-129.
    • (2004) Eur. J. Paediatr. Neural. , vol.8 , pp. 121-129
    • Kyllerman, M.1    Skjeldal, O.2    Christensen, E.3
  • 16
    • 0034120821 scopus 로고    scopus 로고
    • Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management
    • Monavari AA, Naughten ER (2000) Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Arch Dis Child 82: 67-70.
    • (2000) Arch. Dis. Child , vol.82 , pp. 67-70
    • Monavari, A.A.1    Naughten, E.R.2
  • 18
    • 7244226304 scopus 로고    scopus 로고
    • Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I
    • Mühlhausen C, Ergün S, Strauss KA, et al (2004b) Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. J Inherit Metab Dis 27: 829-834.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 829-834
    • Mühlhausen, C.1    Ergün, S.2    Strauss, K.A.3
  • 20
    • 7244239208 scopus 로고    scopus 로고
    • Neuroradiologic findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)
    • Neumaier-Probst E, Harting I, Seitz A, Ding C, Kolker S (2004) Neuroradiologic findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). J Inherit Metab Dis 27: 869-876.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 869-876
    • Neumaier-Probst, E.1    Harting, I.2    Seitz, A.3    Ding, C.4    Kolker, S.5
  • 22
    • 0037177804 scopus 로고    scopus 로고
    • Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and tricarboxylic acid cycle, and synergistically acting excitotoxicity
    • Okun JG, Hörster F, Farkas LM, et al (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277: 14674-14680.
    • (2002) J. Biol. Chem. , vol.277 , pp. 14674-14680
    • Okun, J.G.1    Hörster, F.2    Farkas, L.M.3
  • 26
    • 7244260428 scopus 로고    scopus 로고
    • Glutaric aciduria type I and kynurenine pathway metabolites: A modified hypothesis
    • Varadkar S, Surtees R (2004) Glutaric aciduria type I and kynurenine pathway metabolites: A modified hypothesis. J Inherit Metab Dis 27: 835-842.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 835-842
    • Varadkar, S.1    Surtees, R.2
  • 27
    • 7244243906 scopus 로고    scopus 로고
    • Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency
    • Wajner M, Kölker S, Souza DO, Hoffmann GF, de Mello CF (2004) Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27 825-828.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 825-828
    • Wajner, M.1    Kölker, S.2    Souza, D.O.3    Hoffmann, G.F.4    de Mello, C.F.5
  • 28
    • 0020373407 scopus 로고
    • Maple syrup urine disease - Therapeutic use of insulin in catabolic states
    • Wendel U, Langenbeck U, Lombeck I, Bremer HJ (1982) Maple syrup urine disease - therapeutic use of insulin in catabolic states. Eur J Pediatr 139: 172-175.
    • (1982) Eur. J. Pediatr. , vol.139 , pp. 172-175
    • Wendel, U.1    Langenbeck, U.2    Lombeck, I.3    Bremer, H.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.