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Volumn 21, Issue 11, 2006, Pages 983-985

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; GROWTH HORMONE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 33846270306     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210111001     Document Type: Article
Times cited : (20)

References (13)
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  • 3
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    • Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
    • Nicolino M, Ferlin T, Forest M, et al: Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. J Clin Endocrinol Metab 1997;82:3063-3067.
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    • Nicolino, M.1    Ferlin, T.2    Forest, M.3
  • 4
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    • Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy
    • Gucuyener K, Seyrantepe V, Topaloglu H, Ozguc M: Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy. J Inherit Metab Dis 1998;21:173-174.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 173-174
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  • 5
    • 0036626891 scopus 로고    scopus 로고
    • Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion
    • Bruno C, Gandullia P, Santorelli FM, et al: Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. Clin Genet 2002;61:465-467.
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  • 6
    • 0028288589 scopus 로고
    • Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome
    • Niaudet P, Heidet L, Munnich A, et al: Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 1994;8:164-168.
    • (1994) Pediatr Nephrol , vol.8 , pp. 164-168
    • Niaudet, P.1    Heidet, L.2    Munnich, A.3
  • 7
    • 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
  • 8
    • 0036018880 scopus 로고    scopus 로고
    • A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    • Bruno C, Biancheri R, Garavaglia B, et al: A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 2002;17:233-236.
    • (2002) J Child Neurol , vol.17 , pp. 233-236
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  • 9
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    • Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion
    • Santorelli FM, Barmada MA, Pons R, et al: Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. Neurology 1996;47:1320-1323.
    • (1996) Neurology , vol.47 , pp. 1320-1323
    • Santorelli, F.M.1    Barmada, M.A.2    Pons, R.3
  • 10
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    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
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    • Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.