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Volumn 20, Issue 1, 1997, Pages 43-48

Severe lactic acidosis and neonatal death in Pearson syndrome

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0031048505     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005305422544     Document Type: Review
Times cited : (17)

References (17)
  • 1
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457 - 465.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 2
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10,5kb deletion
    • Ballinger SW, Shoffncr JM, Hcdaya EV, et al (1992) Maternally transmitted diabetes and deafness associated with a 10,5kb deletion. Nature Genet 1: 11 - 15.
    • (1992) Nature Genet , vol.1 , pp. 11-15
    • Ballinger, S.W.1    Shoffncr, J.M.2    Hcdaya, E.V.3
  • 4
    • 0025196010 scopus 로고
    • Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow - Pancreas syndrome
    • Cormier V, Rötig A, Quartino AR (1990) Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow - pancreas syndrome. J Pediair 117: 599 - 602.
    • (1990) J Pediair , vol.117 , pp. 599-602
    • Cormier, V.1    Rötig, A.2    Quartino, A.R.3
  • 5
    • 0030585340 scopus 로고    scopus 로고
    • Deletion of DNA fragments encompassing the deletion junction of mitochondrial genome
    • Goto Y, Nishino I, Horai S, Nonaka I (1996) Deletion of DNA fragments encompassing the deletion junction of mitochondrial genome. Biochem Biophys Res Commun 222: 215 - 219.
    • (1996) Biochem Biophys Res Commun , vol.222 , pp. 215-219
    • Goto, Y.1    Nishino, I.2    Horai, S.3    Nonaka, I.4
  • 6
    • 8044226210 scopus 로고
    • Two cases of Pearson marrow - Pancreas syndrome
    • Japanese
    • Higuchi R, Aoyagi N, Mizukoshi M, et al (1992) Two cases of Pearson marrow - pancreas syndrome. Acta Neonatol Jpn 28: 291 - 296 (Japanese).
    • (1992) Acta Neonatol Jpn , vol.28 , pp. 291-296
    • Higuchi, R.1    Aoyagi, N.2    Mizukoshi, M.3
  • 7
    • 0025968682 scopus 로고
    • Pearson syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA
    • McShane MA, Hammans SR, Sweeny M, et al (1991) Pearson syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA. Am J Hum Genet 48: 39 - 42.
    • (1991) Am J Hum Genet , vol.48 , pp. 39-42
    • McShane, M.A.1    Hammans, S.R.2    Sweeny, M.3
  • 8
    • 0018712317 scopus 로고
    • A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
    • Pearson HA, Lobel JS, Kocoshis SA, et al (1979) A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95: 976 - 984.
    • (1979) J Pediatr , vol.95 , pp. 976-984
    • Pearson, H.A.1    Lobel, J.S.2    Kocoshis, S.A.3
  • 9
    • 0000048216 scopus 로고
    • Lactic acidemia (Disorders of pyruvate carboxylase, pyruvate dehydrogenase)
    • Scriver CR, Beaudet AL, Sly WS, eds. New York: McGraw-Hill
    • Robinson BH (1995) Lactic acidemia (Disorders of pyruvate carboxylase, pyruvate dehydrogenase). In Scriver CR, Beaudet AL, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1479 - 1499.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , pp. 1479-1499
    • Robinson, B.H.1
  • 10
    • 0025133424 scopus 로고
    • Pearson's marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy
    • Rötig A, Cormier V, Blanche S, et al (1990) Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 86: 1601 - 1608.
    • (1990) J Clin Invest , vol.86 , pp. 1601-1608
    • Rötig, A.1    Cormier, V.2    Blanche, S.3
  • 11
    • 0026180131 scopus 로고
    • Site-specific deletions of the mitochondrial genome in the Pearson marrow - Pancreas syndrome
    • Rötig A, Cormier V, Koll F (1991) Site-specific deletions of the mitochondrial genome in the Pearson marrow - pancreas syndrome. Genomics 10: 502 - 504.
    • (1991) Genomics , vol.10 , pp. 502-504
    • Rötig, A.1    Cormier, V.2    Koll, F.3
  • 12
    • 0026569283 scopus 로고
    • Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
    • Rötig A, Bessis JL, Romero N (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50: 364 - 370.
    • (1992) Am J Hum Genet , vol.50 , pp. 364-370
    • Rötig, A.1    Bessis, J.L.2    Romero, N.3
  • 13
    • 0029147133 scopus 로고
    • Spectrum of mitochondrial DNA rearrangements in the Pearson marrow - Pancreas syndrome
    • Rötig A, Bourgeron T, Chretein D, et al (1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow - pancreas syndrome. Hum Mol Genet 4: 1327 - 1330,
    • (1995) Hum Mol Genet , vol.4 , pp. 1327-1330
    • Rötig, A.1    Bourgeron, T.2    Chretein, D.3
  • 14
    • 0027158067 scopus 로고
    • Molecular and genetic analysis of two patients with Pearson's marrow - Pancreas syndrome
    • Sano T, Ban K, Ichiki T, et al (1993) Molecular and genetic analysis of two patients with Pearson's marrow - pancreas syndrome. Pediatr Res 34: 105 - 110.
    • (1993) Pediatr Res , vol.34 , pp. 105-110
    • Sano, T.1    Ban, K.2    Ichiki, T.3
  • 15
    • 0019467736 scopus 로고
    • Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate
    • Stoddard RA, McCurnin DC, Shultenover SJ, et al (1981) Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. J Pediatr 99: 259 - 261.
    • (1981) J Pediatr , vol.99 , pp. 259-261
    • Stoddard, R.A.1    McCurnin, D.C.2    Shultenover, S.J.3
  • 16
    • 8044258579 scopus 로고
    • Pearson's bone marrow - Pancreas syndrome with elevated HbF, lactic acidosis, renal Fanconi syndrome, and insulin-dependent diabetes mellitus caused by deletion-duplication of mitochondrial DNA
    • Superti-Furga A, Schoenle E, Tuchschmid P, et al (1991) Pearson's bone marrow - pancreas syndrome with elevated HbF, lactic acidosis, renal Fanconi syndrome, and insulin-dependent diabetes mellitus caused by deletion-duplication of mitochondrial DNA, Eur J Pediatr 150: 295.
    • (1991) Eur J Pediatr , vol.150 , pp. 295
    • Superti-Furga, A.1    Schoenle, E.2    Tuchschmid, P.3
  • 17
    • 8044234552 scopus 로고
    • Disorders of organic acid metabolism
    • Volpe JJ, ed. Philadelphia: W.B. Saunders
    • Volpe JJ (1995) Disorders of organic acid metabolism. In Volpe JJ, ed. Neurology of the Newborn, 3rd edn. Philadelphia: W.B. Saunders, 542 - 564.
    • (1995) Neurology of the Newborn, 3rd Edn. , pp. 542-564
    • Volpe, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.