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Journal Abstract Search

139 related items for PubMed ID: 9061566

  • 1. Severe lactic acidosis and neonatal death in Pearson syndrome.
    Muraki K, Goto Y, Nishino I, Hayashidani M, Takeuchi S, Horai S, Sakura N, Ueda K.
    J Inherit Metab Dis; 1997 Mar; 20(1):43-8. PubMed ID: 9061566
    [Abstract] [Full Text] [Related]

  • 2. Pearson marrow pancreas syndrome: a molecular study and clinical management.
    Seneca S, De Meirleir L, De Schepper J, Balduck N, Jochmans K, Liebaers I, Lissens W.
    Clin Genet; 1997 May; 51(5):338-42. PubMed ID: 9212183
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  • 3. Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA.
    Smith OP, Hann IM, Woodward CE, Brockington M.
    Br J Haematol; 1995 Jun; 90(2):469-72. PubMed ID: 7794775
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  • 4. Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.
    Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ.
    J Inherit Metab Dis; 2004 Jun; 27(1):47-55. PubMed ID: 14970745
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  • 5. Fatal acidosis in a neonate with Pearson syndrome.
    Gürakan B, Ozbek N, Varan B, Demirhan B.
    Turk J Pediatr; 1999 Jun; 41(3):361-4. PubMed ID: 10770098
    [Abstract] [Full Text] [Related]

  • 6. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.
    Superti-Furga A, Schoenle E, Tuchschmid P, Caduff R, Sabato V, DeMattia D, Gitzelmann R, Steinmann B.
    Eur J Pediatr; 1993 Jan; 152(1):44-50. PubMed ID: 7680315
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
    Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A.
    Hum Mol Genet; 1995 Aug; 4(8):1327-30. PubMed ID: 7581370
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  • 8. Clinical implications of duplicated mtDNA in Pearson syndrome.
    Muraki K, Sakura N, Ueda H, Kihara H, Goto Y.
    Am J Med Genet; 2001 Jan 22; 98(3):205-9. PubMed ID: 11169556
    [Abstract] [Full Text] [Related]

  • 9. Pearson's marrow-pancreas syndrome in 2 Turkish children.
    Gürgey A, Rötig A, Gümrük F, Cemeroğlu P, Sarialioğlu F, Altay C.
    Acta Haematol; 1992 Jan 22; 87(4):206-9. PubMed ID: 1519437
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  • 11. Pearson's marrow/pancreas syndrome: a histological and genetic study.
    Morikawa Y, Matsuura N, Kakudo K, Higuchi R, Koike M, Kobayashi Y.
    Virchows Arch A Pathol Anat Histopathol; 1993 Jan 22; 423(3):227-31. PubMed ID: 8236818
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  • 12. 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 Jan 22; 52(1):23-6. PubMed ID: 19026771
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  • 14. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.
    Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, Rötig A.
    Pediatr Nephrol; 1994 Apr 22; 8(2):164-8. PubMed ID: 8018492
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  • 15. Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA.
    Krauch G, Wilichowski E, Schmidt KG, Mayatepek E.
    Am J Med Genet; 2002 Jun 01; 110(1):57-61. PubMed ID: 12116272
    [Abstract] [Full Text] [Related]

  • 16. Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome.
    de Vries DD, Buzing CJ, Ruitenbeek W, van der Wouw MP, Sperl W, Sengers RC, Trijbels JM, van Oost BA.
    Neuromuscul Disord; 1992 Jun 01; 2(3):185-95. PubMed ID: 1483044
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  • 17. Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.
    de Vries DD, Ruitenbeek W, van Oost BA.
    J Inherit Metab Dis; 1992 Jun 01; 15(3):307-10. PubMed ID: 1405463
    [No Abstract] [Full Text] [Related]

  • 18. Two new cases with Pearson syndrome and review of Hacettepe experience.
    Topaloğlu R, Lebre AS, Demirkaya E, Kuşkonmaz B, Coşkun T, Orhan D, Gürgey A, Gümrük F.
    Turk J Pediatr; 2008 Jun 01; 50(6):572-6. PubMed ID: 19227422
    [Abstract] [Full Text] [Related]

  • 19. Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
    Götz A, Isohanni P, Liljeström B, Rummukainen J, Nikolajev K, Herrgård E, Marjavaara S, Suomalainen A.
    Pediatr Res; 2012 Jul 01; 72(1):90-4. PubMed ID: 22453297
    [Abstract] [Full Text] [Related]

  • 20. Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
    Morel AS, Joris N, Meuli R, Jacquemont S, Ballhausen D, Bonafé L, Fattet S, Tolsa JF.
    Eur J Pediatr; 2009 Mar 01; 168(3):311-5. PubMed ID: 18553104
    [Abstract] [Full Text] [Related]

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