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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 2
1993 1
1997 1
1998 1
1999 1
2001 1
2002 2
2003 2
2007 1
2008 1
2009 1
2010 2
2011 1
2012 2
2013 2
2014 1
2015 2
2017 3
2018 4
2019 4
2020 1
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2023 2
2024 1

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39 results

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Page 1
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). ...
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs) …
Pearson syndrome.
Farruggia P, Di Marco F, Dufour C. Farruggia P, et al. Expert Rev Hematol. 2018 Mar;11(3):239-246. doi: 10.1080/17474086.2018.1426454. Epub 2018 Jan 23. Expert Rev Hematol. 2018. PMID: 29337599 Review.
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. ...
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitocho …
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M, Metherell LA. Corkery-Hayward M, et al. Int J Mol Sci. 2023 Jan 6;24(2):1126. doi: 10.3390/ijms24021126. Int J Mol Sci. 2023. PMID: 36674647 Free PMC article. Review.
In line with previous reviews, adrenal dysfunction was most prevalent in mitochondrial deletion syndromes (particularly Pearson syndrome and Kearns-Sayre syndrome) and with point mutations that compromised oxidative phosphorylation. ...
In line with previous reviews, adrenal dysfunction was most prevalent in mitochondrial deletion syndromes (particularly Pearson sy …
Pancreatic Malnutrition in Children.
Normatov I, Sentongo T. Normatov I, et al. Pediatr Ann. 2019 Nov 1;48(11):e441-e447. doi: 10.3928/19382359-20191018-01. Pediatr Ann. 2019. PMID: 31710363 Review.
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E. Ardissone A, et al. Eur J Neurol. 2023 Jul;30(7):2079-2091. doi: 10.1111/ene.15814. Epub 2023 Apr 25. Eur J Neurol. 2023. PMID: 37038312 Free article. Review.
Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, represent unfavorable prognostic factors. ...
Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, repre …
Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.
Tadiotto E, Maines E, Degani D, Balter R, Bordugo A, Cesaro S. Tadiotto E, et al. Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26939. Epub 2017 Dec 29. Pediatr Blood Cancer. 2018. PMID: 29286581 Review.
Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. ...
Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exo …
Gastrointestinal manifestations of mitochondrial disease.
Gillis LA, Sokol RJ. Gillis LA, et al. Gastroenterol Clin North Am. 2003 Sep;32(3):789-817, v. doi: 10.1016/s0889-8553(03)00052-9. Gastroenterol Clin North Am. 2003. PMID: 14562575 Review.
Although non-specific gastrointestinal and hepatic symptoms are commonly found in most mitochondrial disorders, they are among the cardinal manifestations of several primary mitochondrial diseases, such as: mitochondrial neurogastrointestinal encephalomyopathy; mitochondrial DNA …
Although non-specific gastrointestinal and hepatic symptoms are commonly found in most mitochondrial disorders, they are among the cardinal …
Mitochondrial hepatopathies in the newborn period.
Fellman V, Kotarsky H. Fellman V, et al. Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Semin Fetal Neonatal Med. 2011. PMID: 21680270 Review.
The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in several nuclear DNA genes have been identified that lead to mitochondrial hepatopathy, e.g. mitochondrial depletion syndrome caused by DGUO …
The most common liver manifestation caused by mutated mitochondrial DNA (deletion) is Pearson syndrome. Recently, mutations in …
Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.
Mkaouar-Rebai E, Chamkha I, Mezghani N, Ben Ayed I, Fakhfakh F. Mkaouar-Rebai E, et al. Mitochondrial DNA. 2013 Jun;24(3):163-78. doi: 10.3109/19401736.2012.748045. Epub 2013 Jan 9. Mitochondrial DNA. 2013. PMID: 23301511 Review.
To investigate the spectrum of common mitochondrial mutations in Tunisia during the years of 2002-2012, 226 patients with mitochondrial disorders were clinically diagnosed with hearing loss, Leigh syndrome (LS), diabetes, cardiomyopathy, Kearns-Sayre syndrome (KSS), Pearson …
To investigate the spectrum of common mitochondrial mutations in Tunisia during the years of 2002-2012, 226 patients with mitochondrial diso …
39 results