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Volumn 21, Issue 6, 1999, Pages 413-415

Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers

Author keywords

Chronic progressive external ophthalmoplegia; Common deletion; mtDNA; Ptosis

Indexed keywords

CARNITINE; LACTIC ACID; MITOCHONDRIAL DNA; MULTIVITAMIN; PYRIDOSTIGMINE; PYRUVIC ACID; UBIDECARENONE;

EID: 0032814569     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(99)00035-2     Document Type: Article
Times cited : (2)

References (12)
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  • 2
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    • Shoffner, J.M.1
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    • A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine dysfunction
    • Pearson H.A., Lobel J.S., Kocoshis S.A., Naiman J.L., Windmiller J., Lammi A.T., et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine dysfunction. J Pediatr. 95:1979;976-984.
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    • Simonsz H.J., Barlocher K., Rötig A. Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion. Documen Ophthalmol. 82:1992;73-79.
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    • Simonsz, H.J.1    Barlocher, K.2    Rötig, A.3
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    • The association between hematological manifestation and mtDNA deletions in Pearson syndrome
    • Muraki K., Nishimura S., Goto Y., Nonaka I., Sakura N., Ueda K. The association between hematological manifestation and mtDNA deletions in Pearson syndrome. J Inherit Metab Dis. 20:1997;697-703.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 697-703
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    • Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: Noninvasive diagnosis of mitochondrial myopathy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.