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PUBMED FOR HANDHELDS

Journal Abstract Search

219 related items for PubMed ID: 19026771

  • 1.
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  • 2. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
    Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM.
    Eur J Pediatr; 2016 Apr; 175(4):517-25. PubMed ID: 26563427
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  • 3. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).
    Pitchon EM, Cachat F, Jacquemont S, Hinard C, Borruat FX, Schorderet DF, Morris MA, Munier FL.
    Klin Monbl Augenheilkd; 2007 Apr; 224(4):340-3. PubMed ID: 17458809
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  • 4. 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 Apr; 50(6):572-6. PubMed ID: 19227422
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  • 6. Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
    Ezgu F, Senaca S, Gunduz M, Tumer L, Hasanoglu A, Tiras U, Unsal R, Bakkaloglu SA.
    Gene; 2013 Oct 10; 528(2):364-6. PubMed ID: 23892085
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  • 7. 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, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA.
    Eur J Hum Genet; 2000 Mar 10; 8(3):195-203. PubMed ID: 10780785
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  • 8. Fatal acidosis in a neonate with Pearson syndrome.
    Gürakan B, Ozbek N, Varan B, Demirhan B.
    Turk J Pediatr; 1999 Mar 10; 41(3):361-4. PubMed ID: 10770098
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  • 11. 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 10; 8(2):164-8. PubMed ID: 8018492
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  • 13. Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis.
    Mochizuki H, Joh K, Kawame H, Imadachi A, Nozaki H, Ohashi T, Usui N, Eto Y, Kanetsuna Y, Aizawa S.
    Clin Nephrol; 1996 Nov 10; 46(5):347-52. PubMed ID: 8953126
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  • 15. 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 10; 20(1):43-8. PubMed ID: 9061566
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  • 17. Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome.
    Tajan A, Riebel A, Zavala MJ, Quiroz L, Monzón P, Ardiles L, Krall P, Lehmann P.
    Pediatr Nephrol; 2024 Feb 10; 39(2):447-450. PubMed ID: 37682370
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  • 18. [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 10; 48(3):171-8. PubMed ID: 2048956
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