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Volumn 19, Issue 5, 2004, Pages 379-381

Should autistic children be evaluated for mitochondrial disorders?

Author keywords

[No Author keywords available]

Indexed keywords

AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTRACHROMOSOMAL INHERITANCE; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; PRIORITY JOURNAL; PROGNOSIS; REVIEW;

EID: 3042819608     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380401900510     Document Type: Review
Times cited : (30)

References (21)
  • 1
    • 0033837083 scopus 로고    scopus 로고
    • Practice parameters: Screening and diagnosis of autism
    • Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
    • Filipek PA, Accardo PJ Ashwal S, et al: Practice parameters: Screening and diagnosis of autism. Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 2000;55:468-479.
    • (2000) Neurology , vol.55 , pp. 468-479
    • Filipek, P.A.1    Accardo, P.J.2    Ashwal, S.3
  • 4
    • 0026749249 scopus 로고
    • Subgroups in autism: Are there behavioural phenotypes typical of underlying medical conditions?
    • Gillberg C: Subgroups in autism: Are there behavioural phenotypes typical of underlying medical conditions? J Intellect Disabil Res 1992;36:201-214.
    • (1992) J. Intellect. Disabil. Res. , vol.36 , pp. 201-214
    • Gillberg, C.1
  • 5
    • 0003491375 scopus 로고
    • Metabolic disorders, in Clinics in Developmental Medicine No. 126
    • 2nd ed. Oxford, Mac Keith Press
    • Gillberg C, Coleman M: Metabolic disorders, in Clinics in Developmental Medicine No. 126. The Biology of the Autistic Syndromes, 2nd ed. Oxford, Mac Keith Press, 1992, 203-217.
    • (1992) The Biology of the Autistic Syndromes , pp. 203-217
    • Gillberg, C.1    Coleman, M.2
  • 7
    • 0027190361 scopus 로고
    • Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study
    • Dotti MT, Manneschi L, Malandrini A, et al: Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev 1993;15:103-106.
    • (1993) Brain Dev. , vol.15 , pp. 103-106
    • Dotti, M.T.1    Manneschi, L.2    Malandrini, A.3
  • 8
    • 0025865424 scopus 로고
    • Rett syndrome and mitochondrial enzyme deficiencies
    • Coker SB, Melnyk AR: Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1991;6:164-166.
    • (1991) J. Child Neurol. , vol.6 , pp. 164-166
    • Coker, S.B.1    Melnyk, A.R.2
  • 10
    • 0031748285 scopus 로고    scopus 로고
    • Autism: A mitochondrial disorder?
    • Lombard J: Autism: A mitochondrial disorder? Med Hypotheses 1998;50:497-500.
    • (1998) Med. Hypotheses , vol.50 , pp. 497-500
    • Lombard, J.1
  • 11
    • 0032771227 scopus 로고    scopus 로고
    • Multiple presentations of mitochondrial disorders
    • Nissenkorn A, Zeharia A, Lev D, et al: Multiple presentations of mitochondrial disorders. Arch Dis Child 1999;81:209-214.
    • (1999) Arch. Dis. Child , vol.81 , pp. 209-214
    • Nissenkorn, A.1    Zeharia, A.2    Lev, D.3
  • 12
    • 0034048044 scopus 로고    scopus 로고
    • Autism associated with the mitochondrial DNA G8363A transfer RNA (Lys) mutation
    • Graf WD, Marin-Garcia J, Gao HG, et al: Autism associated with the mitochondrial DNA G8363A transfer RNA (Lys) mutation. J Child Neurol 2000;15:357-361.
    • (2000) J. Child Neurol. , vol.15 , pp. 357-361
    • Graf, W.D.1    Marin-Garcia, J.2    Gao, H.G.3
  • 13
    • 0037218815 scopus 로고    scopus 로고
    • The prevalence of autism
    • Fombonne E: The prevalence of autism. JAMA 2003;289:87-89.
    • (2003) JAMA , vol.289 , pp. 87-89
    • Fombonne, E.1
  • 14
    • 0036592842 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome
    • Filiano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J: Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol 2002;17:435-439.
    • (2002) J. Child Neurol. , vol.17 , pp. 435-439
    • Filiano, J.J.1    Goldenthal, M.J.2    Rhodes, C.H.3    Marin-Garcia, J.4
  • 15
    • 0025126453 scopus 로고
    • Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies
    • Zhang X, Schoffner JM, Voljavec AS, Wallace DC: Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta 1990;1019:1-10.
    • (1990) Biochim. Biophys. Acta , vol.1019 , pp. 1-10
    • Zhang, X.1    Schoffner, J.M.2    Voljavec, A.S.3    Wallace, D.C.4
  • 16
    • 0027481838 scopus 로고
    • Problems with the biochemical diagnosis in the mitochondrial encephalo-myopathies
    • Trijbel JMF, Scolle HR, Tuitenbeek W, et al: Problems with the biochemical diagnosis in the mitochondrial encephalo-myopathies. Eur J Pediatr 1993;152:178-184.
    • (1993) Eur. J. Pediatr. , vol.152 , pp. 178-184
    • Trijbel, J.M.F.1    Scolle, H.R.2    Tuitenbeek, W.3
  • 17
    • 0028349236 scopus 로고
    • Decline with age of the respiratory activity in human muscle
    • Boffoli D, Scacco SC, Vergari R, et al: Decline with age of the respiratory activity in human muscle. Biochim Biophys Acta 1994;1226:73-82.
    • (1994) Biochim. Biophys. Acta , vol.1226 , pp. 73-82
    • Boffoli, D.1    Scacco, S.C.2    Vergari, R.3
  • 18
    • 0029024542 scopus 로고
    • Biochemical studies of isolated mitochondria from normal and diseased tissues
    • Lee CP: Biochemical studies of isolated mitochondria from normal and diseased tissues. Biochim Biophys Acta 1995;1271:21-28.
    • (1995) Biochim. Biophys. Acta , vol.1271 , pp. 21-28
    • Lee, C.P.1
  • 19
    • 0028853224 scopus 로고
    • Enzymatic activities of mitochondrial respiratory complexes from children muscular biopsies: Age-related evolutions
    • Lefai E, Terrier-Cayre A, Vincent A, et al: Enzymatic activities of mitochondrial respiratory complexes from children muscular biopsies: Age-related evolutions. Biochim Biophys Acta 1995; 1228:43-50.
    • (1995) Biochim. Biophys. Acta , vol.1228 , pp. 43-50
    • Lefai, E.1    Terrier-Cayre, A.2    Vincent, A.3
  • 20
    • 0035119914 scopus 로고    scopus 로고
    • Poor storage and handling of tissue mimics mitochondrial DNA depletion
    • Berger A, Bruschek M, Grethen C, et al. Poor storage and handling of tissue mimics mitochondrial DNA depletion. Diagn Mol Pathol 2001;10:55-59.
    • (2001) Diagn. Mol. Pathol. , vol.10 , pp. 55-59
    • Berger, A.1    Bruschek, M.2    Grethen, C.3
  • 21
    • 0034780619 scopus 로고    scopus 로고
    • Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases
    • Kang PB, Hunter JV, Kaye EM: Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases. J Child Neurol 2001;16:657-660.
    • (2001) J. Child Neurol. , vol.16 , pp. 657-660
    • Kang, P.B.1    Hunter, J.V.2    Kaye, E.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.