Works matching Pearson syndrome

Results: 130
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    Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.

    Published in:
    British Journal of Haematology, 2021, v. 193, n. 6, p. 1283, doi. 10.1111/bjh.17434
    By:
    • Yoshimi, Ayami;
    • Grünert, Sarah C.;
    • Cario, Holger;
    • Fisch, Aron;
    • Gross‐Wieltsch, Ute;
    • Timmermann, Kirsten;
    • Kontny, Udo;
    • Lobitz, Stephan;
    • Odenthal, Helen S.;
    • Schmid, Irene;
    • Uetz, Barbara;
    • Höll, Tanja;
    • Rötig, Agnès;
    • Lücke, Thomas;
    • Borkhardt, Arndt;
    • Strauß, Gabriele;
    • Hohnecker, Alexander;
    • Metzler, Markus;
    • Karall, Daniela;
    • Niemeyer, Charlotte M.
    Publication type:
    Article
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    Pearson Sendromlu Bir Olguda Mitokondrial Miyopati Rehabilitasyonu.

    Published in:
    Turkish Journal of Physical Medicine & Rehabilitation / Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi, 2011, p. 341, doi. 10.4274/tftr.14880
    By:
    • BATUR, Güzide;
    • AYHAN, Fikriye Figen;
    • ALİĞLU, Bülent;
    • OKUMUŞ, Müyesser;
    • BORMAN, Pınar
    Publication type:
    Article
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    Redefining phenotypes associated with mitochondrial DNA single deletion.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y
    By:
    • Mancuso, Michelangelo;
    • Orsucci, Daniele;
    • Angelini, Corrado;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Comi, Giacomo;
    • Donati, Maria;
    • Federico, Antonio;
    • Minetti, Carlo;
    • Moggio, Maurizio;
    • Mongini, Tiziana;
    • Santorelli, Filippo;
    • Servidei, Serenella;
    • Tonin, Paola;
    • Toscano, Antonio;
    • Bruno, Claudio;
    • Bello, Luca;
    • Caldarazzo Ienco, Elena;
    • Cardaioli, Elena;
    • Catteruccia, Michela
    Publication type:
    Article
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    Yenidogan doneminde pearson sendromu.

    Published in:
    Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2011, v. 8, n. 2, p. 68
    By:
    • Barış Akcan, Abdullah;
    • Akcan, Mediha
    Publication type:
    Article
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    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

    Published in:
    PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
    By:
    • Gustafson, Margaret A.;
    • McCormick, Elizabeth M.;
    • Perera, Lalith;
    • Longley, Matthew J.;
    • Bai, Renkui;
    • Kong, Jianping;
    • Dulik, Matthew;
    • Shen, Lishuang;
    • Goldstein, Amy C.;
    • McCormack, Shana E.;
    • Laskin, Benjamin L.;
    • Leroy, Bart P.;
    • Ortiz-Gonzalez, Xilma R.;
    • Ellington, Meredith G.;
    • Copeland, William C.;
    • Falk, Marni J.
    Publication type:
    Article
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    Juvenile Pearson Syndrome.

    Published in:
    Journal of Child Neurology, 1990, v. 5, n. 3, p. 186, doi. 10.1177/088307389000500305
    By:
    • Blaw, Michael E.;
    • Mize, Charles E.
    Publication type:
    Article
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    A case of Pearson syndrome associated with multiple renal cysts.

    Published in:
    Pediatric Nephrology, 1996, v. 10, n. 5, p. 637, doi. 10.1007/s004670050178
    By:
    • Gürgey, Aytemiz;
    • Özalp, İmran;
    • Rötig, Agnes;
    • Coşkun, Turgay;
    • Tekinalp, Gülsevin;
    • Erdem, Gülsen;
    • Akcören, Zühal;
    • Caglar, Melda;
    • Bakkaloglu, Aysιn
    Publication type:
    Article
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    Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.

    Published in:
    Pediatric Blood & Cancer, 2021, v. 68, n. 2, p. 1, doi. 10.1002/pbc.28799
    By:
    • Nishimura, Akira;
    • Hirabayashi, Shinsuke;
    • Hasegawa, Daisuke;
    • Yoshida, Kenichi;
    • Shiraishi, Yuichi;
    • Ashiarai, Miho;
    • Hosoya, Yosuke;
    • Fujiwara, Tohru;
    • Harigae, Hideo;
    • Miyano, Satoru;
    • Ogawa, Seishi;
    • Manabe, Atsushi
    Publication type:
    Article
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    Corneal endothelial dysfunction in Pearson syndrome.

    Published in:
    Ophthalmic Genetics, 2013, v. 34, n. 1/2, p. 55, doi. 10.3109/13816810.2011.610862
    By:
    • Kasbekar, Shivani A.;
    • Gonzalez-Martin, Jose A.;
    • Shafiq, Ayad E.;
    • Chandna, Arvind;
    • Willoughby, Colin E.
    Publication type:
    Article
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    Biochemical abnormalities in Pearson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 621, doi. 10.1002/ajmg.a.36939
    By:
    • Crippa, Beatrice Letizia;
    • Leon, Eyby;
    • Calhoun, Amy;
    • Lowichik, Amy;
    • Pasquali, Marzia;
    • Longo, Nicola
    Publication type:
    Article
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    Síndrome de Pearson. Reporte de un caso.

    Published in:
    Investigación Clínica, 2011, v. 52, n. 3, p. 261
    By:
    • Cammarata-Scalisi, Francisco;
    • López-Gallardo, Ester;
    • Emperador, Sonia;
    • Ruiz-Pesini, Eduardo;
    • Da Silva, Gloria;
    • Camacho, Nolis;
    • Montoya, Julio
    Publication type:
    Article
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