메뉴 건너뛰기




Volumn 25, Issue 12, 2003, Pages 948-951

Hematologic Features and Clinical Course of an Infant with Pearson Syndrome Caused by a Novel Deletion of Mitochondrial DNA

Author keywords

Mitochondrial DNA; Mitochondrial DNA mutation; Mitochondriopathy; Pancytopenia; Pearson syndrome

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0347383952     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-200312000-00008     Document Type: Article
Times cited : (24)

References (17)
  • 1
    • 0018712317 scopus 로고
    • A new syndrome of refractory sideroblastic anemia with vacuolisation of marrow precursors and exocrine pancreatic dysfunction
    • Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolisation of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 1979;95:976-984.
    • (1979) J Pediatr , vol.95 , pp. 976-984
    • Pearson, H.A.1    Lobel, J.S.2    Kocoshis, S.A.3
  • 2
    • 0026492033 scopus 로고
    • 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects
    • Gibson KM, Bennett MJ, Mize CE, et al. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr. 1992;121:940-942.
    • (1992) J Pediatr , vol.121 , pp. 940-942
    • Gibson, K.M.1    Bennett, M.J.2    Mize, C.E.3
  • 3
    • 0027310104 scopus 로고
    • Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated foetal haemoglobin caused by deletion and duplication of mitochondrial DNA
    • Superti-Furga A, Schoenle E, Tuchschmid P, et al. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated foetal haemoglobin caused by deletion and duplication of mitochondrial DNA. Eur J Pediatr. 1993;152:44-50.
    • (1993) Eur J Pediatr , vol.152 , pp. 44-50
    • Superti-Furga, A.1    Schoenle, E.2    Tuchschmid, P.3
  • 4
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counselling, prenatal diagnosis and reproductive options
    • Thorbum DR, Dahl H-HM. Mitochondrial disorders: Genetics, counselling, prenatal diagnosis and reproductive options. Am J Med Gen. 2001;106:102-114.
    • (2001) Am J Med Gen , vol.106 , pp. 102-114
    • Thorbum, D.R.1    Dahl, H.-H.M.2
  • 5
    • 0035990290 scopus 로고    scopus 로고
    • Primary and secondary defects of the mitochondrial respiratory chain
    • Schapira AHV. Primary and secondary defects of the mitochondrial respiratory chain. J Inher Metab Dis. 2002;25:207-214.
    • (2002) J Inher Metab Dis , vol.25 , pp. 207-214
    • Schapira, A.H.V.1
  • 6
    • 0028886746 scopus 로고
    • Rapid detection of mitochondrial deletions by polymerase chain reaction
    • Kreuder J, Repp R, Borkhardt A, et al. Rapid detection of mitochondrial deletions by polymerase chain reaction. Eur J Pediatr. 1995;154:996.
    • (1995) Eur J Pediatr , vol.154 , pp. 996
    • Kreuder, J.1    Repp, R.2    Borkhardt, A.3
  • 7
    • 0033556080 scopus 로고    scopus 로고
    • A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection
    • Levine BC, Cheng H, Reeder DJ. A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection. Genomics. 1999;55:135-146.
    • (1999) Genomics , vol.55 , pp. 135-146
    • Levine, B.C.1    Cheng, H.2    Reeder, D.J.3
  • 8
    • 0032980278 scopus 로고    scopus 로고
    • Quantitation of gene expression by realtime PCR disproves a "retroviral hypothesis" for childhood-onset diabetes mellitus
    • Knerr I, Repp R, Dötsch J, et al. Quantitation of gene expression by realtime PCR disproves a "retroviral hypothesis" for childhood-onset diabetes mellitus. Pediatr Res. 1999;46:57-60.
    • (1999) Pediatr Res , vol.46 , pp. 57-60
    • Knerr, I.1    Repp, R.2    Dötsch, J.3
  • 9
    • 0034722872 scopus 로고    scopus 로고
    • Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome
    • Lacbawan F, Tifft CJ, Luban NLC, et al. Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome. Am J Med Gen. 2000;95:266-268.
    • (2000) Am J Med Gen , vol.95 , pp. 266-268
    • Lacbawan, F.1    Tifft, C.J.2    Luban, N.L.C.3
  • 10
    • 0026180131 scopus 로고
    • Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
    • Rötig A, Cormier V, Koll F, et al. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics. 1991;10:502-504.
    • (1991) Genomics , vol.10 , pp. 502-504
    • Rötig, A.1    Cormier, V.2    Koll, F.3
  • 11
    • 0029147133 scopus 로고
    • Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
    • Rötig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 1995;4:1327-1330.
    • (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
    • Rötig, A.1    Bourgeron, T.2    Chretien, D.3
  • 12
    • 0035931461 scopus 로고    scopus 로고
    • Clinical implications of duplicated mtDNA in Pearson syndrome
    • Muraki K, Sakura N, Ueda H, et al. Clinical implications of duplicated mtDNA in Pearson syndrome. Am J Med Genet. 2001;98:205-209.
    • (2001) Am J Med Genet , vol.98 , pp. 205-209
    • Muraki, K.1    Sakura, N.2    Ueda, H.3
  • 13
    • 0027158067 scopus 로고
    • Molecular and genetic analyses of two patients with Pearsońs marrow-pancreas syndrome
    • Sano T, Ban K, Ichiki T, et al. Molecular and genetic analyses of two patients with Pearsońs marrow-pancreas syndrome. PediatrRes. 1993;34:105-110.
    • (1993) PediatrRes , vol.34 , pp. 105-110
    • Sano, T.1    Ban, K.2    Ichiki, T.3
  • 14
    • 0034125609 scopus 로고    scopus 로고
    • Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome
    • van den Ouweland JM, de Klerk JB, van de Corput MP, et al. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur J Hum Genet. 2000;8:195-203.
    • (2000) Eur J Hum Genet , vol.8 , pp. 195-203
    • Van Den Ouweland, J.M.1    De Klerk, J.B.2    Van De Corput, M.P.3
  • 15
    • 0034951326 scopus 로고    scopus 로고
    • Clinical spectrum and diagnosis of mitochondrial disorders
    • Munnich A, Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet. 2001;106:4-17.
    • (2001) Am J Med Genet , vol.106 , pp. 4-17
    • Munnich, A.1    Rustin, P.2
  • 16
    • 0030800458 scopus 로고    scopus 로고
    • The association between haematological manifestation and mtDNA deletions in Pearson syndrome
    • Muraki K, Nishimura S, Goto Y, et al. The association between haematological manifestation and mtDNA deletions in Pearson syndrome. J Inher Metab Dis. 1997;20:697-703.
    • (1997) J Inher Metab Dis , vol.20 , pp. 697-703
    • Muraki, K.1    Nishimura, S.2    Goto, Y.3
  • 17
    • 0037015695 scopus 로고    scopus 로고
    • Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size
    • Gellerich FN, Deschauer M, Chen Y, et al. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochim Biophys Acta. 2002;1556:41-52.
    • (2002) Biochim Biophys Acta , vol.1556 , pp. 41-52
    • Gellerich, F.N.1    Deschauer, M.2    Chen, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.