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Volumn 79, Issue 7, 2012, Pages

Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLCITRIC ACID; ARGININE; BENZOIC ACID; CARNITINE; CARVEDILOL; CITRIC ACID; FUROSEMIDE; HYDRACRYLIC ACID; METRONIDAZOLE; PROPIONIC ACID; PROPIONYL COENZYME A CARBOXYLASE; SPIRONOLACTONE; UNCLASSIFIED DRUG;

EID: 84866119351     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182648bb6     Document Type: Article
Times cited : (5)

References (10)
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    • Acute extrapyramidal syndrome in methylmalonic acidemia: "Metabolic stroke" involving the globus pallidus
    • Heidenreich R, Natowicz M, Hainline BE, et al. Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus. J Pediatr 1988;113:1022-1027
    • (1988) J Pediatr , vol.113 , pp. 1022-1027
    • Heidenreich, R.1    Natowicz, M.2    Hainline, B.E.3
  • 4
    • 33747167133 scopus 로고    scopus 로고
    • Secondary mitochondrial dysfunction in propionic aciduria: A pathogenic role for endogenous mitochondrial toxins
    • Schwab MA, Sauer SW, Okun JG, et al. Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J 2006;398:107-112
    • (2006) Biochem J , vol.398 , pp. 107-112
    • Schwab, M.A.1    Sauer, S.W.2    Okun, J.G.3
  • 5
    • 77952242895 scopus 로고    scopus 로고
    • Glutaric aciduria type i and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus
    • Sauer SW, Opp S, Mahringer A, et al. Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus. Biochim Biophys Acta 2010;1802:552-560
    • (2010) Biochim Biophys Acta , vol.1802 , pp. 552-560
    • Sauer, S.W.1    Opp, S.2    Mahringer, A.3
  • 6
  • 7
    • 64449086828 scopus 로고    scopus 로고
    • Late onset optic neuropathy in methylmalonic and propionic acidemia
    • Williams ZR, Hurley PE, Altiparmak UE, et al. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 2009;147:929 -933
    • (2009) Am J Ophthalmol , vol.147 , pp. 929-933
    • Williams, Z.R.1    Hurley, P.E.2    Altiparmak, U.E.3
  • 8
    • 84863331433 scopus 로고    scopus 로고
    • Propionic acidemia: Neonatal versus selective metabolic screening
    • Grunert SC, Mullerleile S, de Silva L, et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis 2012;35:41- 49
    • (2012) J Inherit Metab Dis , vol.35 , pp. 41-49
    • Grunert, S.C.1    Mullerleile, S.2    De Silva, L.3
  • 9
    • 0037745690 scopus 로고    scopus 로고
    • Potential relationship between genotype and clinical outcome in propionic acidaemia patients
    • Perez-Cerda C, Merinero B, Rodriguez-Pombo P, et al. Potential relationship between genotype and clinical outcome in propionic acidaemia patients. Eur J Hum Genet 2000;8:187-194
    • (2000) Eur J Hum Genet , vol.8 , pp. 187-194
    • Perez-Cerda, C.1    Merinero, B.2    Rodriguez-Pombo, P.3
  • 10
    • 0028031938 scopus 로고
    • Cardiomyopathy in propionic acidemia
    • Collins J, Kelly D. Cardiomyopathy in propionic acidemia. Eur J Pediatr 1994;153:53.
    • (1994) Eur J Pediatr , vol.153 , pp. 53
    • Collins, J.1    Kelly, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.