메뉴 건너뛰기




Volumn 110, Issue 9, 2003, Pages 1850-1854

Optic nerve atrophy in propionic acidemia

Author keywords

[No Author keywords available]

Indexed keywords

PROPIONIC ACID;

EID: 0041930783     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(03)00573-6     Document Type: Article
Times cited : (38)

References (22)
  • 1
    • 0019778269 scopus 로고
    • Propionic acidemia: A clinical update
    • Wolf B, Hsia YE, Sweetman L, et al. Propionic acidemia: a clinical update [review]. J Pediatr 1981;99:835-46.
    • (1981) J Pediatr , vol.99 , pp. 835-846
    • Wolf, B.1    Hsia, Y.E.2    Sweetman, L.3
  • 2
    • 84945700926 scopus 로고
    • Prenatal diagnosis of propionic acidemia
    • Sweetman L, Weyler W, Shafai T, et al. Prenatal diagnosis of propionic acidemia. JAMA 1979;242:1048-52.
    • (1979) JAMA , vol.242 , pp. 1048-1052
    • Sweetman, L.1    Weyler, W.2    Shafai, T.3
  • 3
    • 0028558357 scopus 로고
    • Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations
    • Gascon GG, Ozand PT, Brismar J. Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations. Brain Dev 1994;16(suppl):94-103.
    • (1994) Brain Dev , vol.16 , Issue.SUPPL. , pp. 94-103
    • Gascon, G.G.1    Ozand, P.T.2    Brismar, J.3
  • 4
    • 0029038863 scopus 로고
    • Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management
    • North KN, Korson MS, Gopal YR, et al. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr 1995;126:916-22.
    • (1995) J Pediatr , vol.126 , pp. 916-922
    • North, K.N.1    Korson, M.S.2    Gopal, Y.R.3
  • 5
    • 0024582283 scopus 로고
    • A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia
    • Costeff H, Gadoth N, Apter N, et al. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 1989;39:595-7.
    • (1989) Neurology , vol.39 , pp. 595-597
    • Costeff, H.1    Gadoth, N.2    Apter, N.3
  • 6
    • 0027404101 scopus 로고
    • 3-Methylglutaconic aciduria in "optic atrophy plus."
    • Costeff H, Elpeleg O, Apter N, et al. 3-Methylglutaconic aciduria in "optic atrophy plus." Ann Neurol 1993;33:103-4.
    • (1993) Ann Neurol , vol.33 , pp. 103-104
    • Costeff, H.1    Elpeleg, O.2    Apter, N.3
  • 7
    • 0028040720 scopus 로고
    • CT and MR of the brain in disorders of the propionate and methylmalonate metabolism
    • Brismar J, Ozand PT. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism [review]. ANJR Am J Neuroradiol 1994;15:1459-73.
    • (1994) ANJR Am J Neuroradiol , vol.15 , pp. 1459-1473
    • Brismar, J.1    Ozand, P.T.2
  • 8
    • 0034037526 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia
    • Chemelli AP, Schocke M, Sperl W, et al. Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging 2000;11:596-600.
    • (2000) J Magn Reson Imaging , vol.11 , pp. 596-600
    • Chemelli, A.P.1    Schocke, M.2    Sperl, W.3
  • 9
    • 0032588172 scopus 로고    scopus 로고
    • 18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: Clinical and MRI correlations
    • Al-Essa M, Bakheet S, Patay Z, et al. 18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations. Brain Dev 1999;21:312-7.
    • (1999) Brain Dev , vol.21 , pp. 312-317
    • Al-Essa, M.1    Bakheet, S.2    Patay, Z.3
  • 10
    • 0030766076 scopus 로고    scopus 로고
    • A mitochondrial DNA tRNA (Val) point mutation associated with adult-onset Leigh syndrome
    • Chalmers RM, Lamont PJ, Nelson I, et al. A mitochondrial DNA tRNA (Val) point mutation associated with adult-onset Leigh syndrome. Neurology 1997;49:589-92.
    • (1997) Neurology , vol.49 , pp. 589-592
    • Chalmers, R.M.1    Lamont, P.J.2    Nelson, I.3
  • 11
    • 0023429777 scopus 로고
    • Cytochrome c oxidase deficiency in Leigh syndrome
    • DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506.
    • (1987) Ann Neurol , vol.22 , pp. 498-506
    • DiMauro, S.1    Servidei, S.2    Zeviani, M.3
  • 12
    • 0023335809 scopus 로고
    • Familial Leigh's syndrome: Association with a defect in oxidative metabolism probably restricted to brain
    • van Erven PM, Gabreels FJ, Ruitenbeek W, et al. Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. J Neurol 1987;234:215-9.
    • (1987) J Neurol , vol.234 , pp. 215-219
    • Van Erven, P.M.1    Gabreels, F.J.2    Ruitenbeek, W.3
  • 13
    • 0023100360 scopus 로고
    • Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease
    • Robinson BH, De Meirleir L, Glerum M, et al. Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease. J Pediatr 1987;110:216-22.
    • (1987) J Pediatr , vol.110 , pp. 216-222
    • Robinson, B.H.1    De Meirleir, L.2    Glerum, M.3
  • 14
    • 0027361661 scopus 로고
    • Neonatal exposure to D,L-2-amino-3-phosphonopropionate (D,L-AP3) produces lesions in the eye and optic nerve of adult rats
    • Fix AS, Schoepp DD, Olney JW, et al. Neonatal exposure to D,L-2-amino-3-phosphonopropionate (D,L-AP3) produces lesions in the eye and optic nerve of adult rats. Brain Res Dev Brain Res 1993;75:223-33.
    • (1993) Brain Res Dev Brain Res , vol.75 , pp. 223-233
    • Fix, A.S.1    Schoepp, D.D.2    Olney, J.W.3
  • 15
    • 0034004717 scopus 로고    scopus 로고
    • Propionic and L-methylmalonic acids induce oxidative stress in brain of young rats
    • Fontella FU, Pulrolnik V, Gassen E, et al. Propionic and L-methylmalonic acids induce oxidative stress in brain of young rats. Neuroreport 2000;11:541-4.
    • (2000) Neuroreport , vol.11 , pp. 541-544
    • Fontella, F.U.1    Pulrolnik, V.2    Gassen, E.3
  • 16
    • 0035976362 scopus 로고    scopus 로고
    • Neuroprotective role of L-carnitine in the 3-nitropropionic acid induced neurotoxicity
    • Binienda ZK, Ali SF. Neuroprotective role of L-carnitine in the 3-nitropropionic acid induced neurotoxicity. Toxicol Lett 2001;125:67-73.
    • (2001) Toxicol Lett , vol.125 , pp. 67-73
    • Binienda, Z.K.1    Ali, S.F.2
  • 17
    • 0035211391 scopus 로고    scopus 로고
    • Inhibition of glutamate uptake into synaptic vesicles from rat brain by 3-nitropropionic acid in vitro
    • Tavares RG, Santos CE, Tasca CI, et al. Inhibition of glutamate uptake into synaptic vesicles from rat brain by 3-nitropropionic acid in vitro. Exp Neurol 2001;172:250-4.
    • (2001) Exp Neurol , vol.172 , pp. 250-254
    • Tavares, R.G.1    Santos, C.E.2    Tasca, C.I.3
  • 18
    • 0027460593 scopus 로고
    • Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood
    • Moorman CM, Elston JS, Matthews P. Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood. Pediatrics 1993;91:988-9.
    • (1993) Pediatrics , vol.91 , pp. 988-989
    • Moorman, C.M.1    Elston, J.S.2    Matthews, P.3
  • 19
    • 0025109622 scopus 로고
    • The molecular genetics of Leber's hereditary optic neuropathy
    • Johns DR. The molecular genetics of Leber's hereditary optic neuropathy [editorial]. Arch Ophthalmol 1990;108:1405-7.
    • (1990) Arch Ophthalmol , vol.108 , pp. 1405-1407
    • Johns, D.R.1
  • 20
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991;111:750-62.
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 21
    • 0019989454 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
    • Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch Ophthalmol 1982;100:1597-602.
    • (1982) Arch Ophthalmol , vol.100 , pp. 1597-1602
    • Nikoskelainen, E.1    Hoyt, W.F.2    Nummelin, K.3
  • 22
    • 0021685747 scopus 로고
    • Leber's hereditary optic neuroretinopathy, a mitochondrial disease?
    • letter
    • Nikoskelainen E, Hassinen IE, Paljarvi L, et al. Leber's hereditary optic neuroretinopathy, a mitochondrial disease? [letter]. Lancet 1984;2:1474.
    • (1984) Lancet , vol.2 , pp. 1474
    • Nikoskelainen, E.1    Hassinen, I.E.2    Paljarvi, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.