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85 related items for PubMed ID: 2048956

  • 1. [Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].
    Cormier V, Rötig A, Bonnefont JP, Mechinand F, Berthou C, Goulet O, Schmitz J, Blanche S, Vassaut A, Maier M.
    Arch Fr Pediatr; 1991 Mar; 48(3):171-8. PubMed ID: 2048956
    [Abstract] [Full Text] [Related]

  • 2. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
    Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM.
    J Clin Invest; 1990 Nov; 86(5):1601-8. PubMed ID: 2243133
    [Abstract] [Full Text] [Related]

  • 3. [Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion].
    Danse PW, Jakobs C, Rötig A, Munnich A, Veerman AJ.
    Tijdschr Kindergeneeskd; 1991 Dec; 59(6):196-202. PubMed ID: 1776144
    [Abstract] [Full Text] [Related]

  • 4. [Metabolic, enzymological and molecular assessment of mitochondrial cytopathies].
    Munnich A, Rotig A.
    Pediatrie; 1991 Dec; 46(6-7):509-14. PubMed ID: 1664083
    [Abstract] [Full Text] [Related]

  • 5. Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome.
    Sano T, Ban K, Ichiki T, Kobayashi M, Tanaka M, Ohno K, Ozawa T.
    Pediatr Res; 1993 Jul; 34(1):105-10. PubMed ID: 8356010
    [Abstract] [Full Text] [Related]

  • 6. [Hematologic improvement of Pearson's syndrome confirmed by mitochondrial DNA analysis].
    Park YD, Yanagihara I, Saitoh S, Momoi MY, Yoshioka A.
    Rinsho Ketsueki; 1999 May; 40(5):390-5. PubMed ID: 10390887
    [Abstract] [Full Text] [Related]

  • 7. Aplastic anemia associated with the Shwachman syndrome. In vivo and in vitro observations.
    Woods WG, Krivit W, Lubin BH, Ramsay NK.
    Am J Pediatr Hematol Oncol; 1981 May; 3(4):347-51. PubMed ID: 7332065
    [Abstract] [Full Text] [Related]

  • 8. Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
    Atale A, Bonneau-Amati P, Rötig A, Fischer A, Perez-Martin S, de Lonlay P, Niaudet P, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L.
    Eur J Med Genet; 2009 May; 52(1):23-6. PubMed ID: 19026771
    [Abstract] [Full Text] [Related]

  • 9. [Mitochondrial syndrome].
    Kozłowska I, Rózański J, Ciechanowski K.
    Pol Merkur Lekarski; 2004 Oct; 17(100):395-8. PubMed ID: 15690713
    [Abstract] [Full Text] [Related]

  • 10. A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome.
    Khasawneh R, Alsokhni H, Alzghoul B, Momani A, Abualsheikh N, Kamal N, Qatawneh M.
    Med Arch; 2018 Apr; 72(2):148-150. PubMed ID: 29736106
    [Abstract] [Full Text] [Related]

  • 11. New clinical aspects of Pearson's syndrome. Report of three cases.
    Favareto F, Caprino D, Micalizzi C, Rosanda C, Boeri E, Mori PG.
    Haematologica; 1989 Apr; 74(6):591-4. PubMed ID: 2628242
    [Abstract] [Full Text] [Related]

  • 12. Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.
    Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, Harper J, Wilson LC, Hennekam RC.
    Pediatr Diabetes; 2009 May; 10(3):193-7. PubMed ID: 19175903
    [Abstract] [Full Text] [Related]

  • 13. [Shwachman syndrome].
    Kullmann F, Elze M.
    Dtsch Med Wochenschr; 1991 Nov 29; 116(48):1854. PubMed ID: 1959492
    [No Abstract] [Full Text] [Related]

  • 14. The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.
    van den Heuvel L, Smeitink J.
    Bioessays; 2001 Jun 29; 23(6):518-25. PubMed ID: 11385631
    [Abstract] [Full Text] [Related]

  • 15. Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion.
    Simonsz HJ, Bärlocher K, Rötig A.
    Doc Ophthalmol; 1992 Jun 29; 82(1-2):73-9. PubMed ID: 1305030
    [Abstract] [Full Text] [Related]

  • 16. Nuclear and mitochondrial genome responses in HeLa cells treated with inhibitors of mitochondrial DNA expression.
    Piechota J, Szczesny R, Wolanin K, Chlebowski A, Bartnik E.
    Acta Biochim Pol; 2006 Jun 29; 53(3):485-95. PubMed ID: 16951738
    [Abstract] [Full Text] [Related]

  • 17. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
    Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L.
    Exp Hematol; 2006 Nov 29; 34(11):1517-21. PubMed ID: 17046571
    [Abstract] [Full Text] [Related]

  • 18. Identification of novel mutations in patients with Shwachman-Diamond syndrome.
    Nicolis E, Bonizzato A, Assael BM, Cipolli M.
    Hum Mutat; 2005 Apr 29; 25(4):410. PubMed ID: 15776428
    [Abstract] [Full Text] [Related]

  • 19. Therapeutic approach in a case of Pearson's syndrome.
    Zaffanello M, Zamboni G.
    Minerva Pediatr; 2005 Jun 29; 57(3):143-6. PubMed ID: 16170299
    [Abstract] [Full Text] [Related]

  • 20. [Pearson syndrome. Case report].
    Cammarata-Scalisi F, López-Gallardo E, Emperador S, Ruiz-Pesini E, Da Silva G, Camacho N, Montoya J.
    Invest Clin; 2011 Sep 29; 52(3):261-7. PubMed ID: 21950197
    [Abstract] [Full Text] [Related]

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