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55 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: Spontaneously Recovering Anemia and Hypoparathyroidism.
Nilay M, Phadke SR. Nilay M, et al. Indian J Pediatr. 2020 Dec;87(12):1070-1072. doi: 10.1007/s12098-020-03333-9. Epub 2020 Jun 15. Indian J Pediatr. 2020. PMID: 32537709
Pearson syndrome is a genetic disorder caused by mutations in the mitochondrial genome, characterized by failure to thrive with hematological and gastrointestinal abnormalities. Individuals with Pearson syndrome may develop the symptoms and signs of Ke …
Pearson syndrome is a genetic disorder caused by mutations in the mitochondrial genome, characterized by failure to thrive wit …
Clinical and genetic features of four patients with Pearson syndrome: An observational study.
Son JS, Seo GH, Kim YM, Kim GH, Jin HK, Bae JS, Im HJ, Yoo HW, Lee BH. Son JS, et al. Medicine (Baltimore). 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793. Medicine (Baltimore). 2022. PMID: 35119049 Free PMC article.
Pearson syndrome (PS) is a multisystem mitochondrial cytopathy arising from deletions in mitochondrial DNA. Pearson syndrome is a sporadic disease that affects the hematopoietic system, pancreas, eyes, liver, and heart and the prognosis is poor. ...
Pearson syndrome (PS) is a multisystem mitochondrial cytopathy arising from deletions in mitochondrial DNA. Pearson …
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 …
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 …
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 …
Hematological manifestations of primary mitochondrial disorders.
Finsterer J. Finsterer J. Acta Haematol. 2007;118(2):88-98. doi: 10.1159/000105676. Epub 2007 Jul 18. Acta Haematol. 2007. PMID: 17637511 Review.
Syndromic MIDs, in which hematological manifestations predominate, are the Pearson syndrome (pancytopenia), Kearns-Sayre syndrome (anemia), Barth syndrome (neutropenia), and the autosomal recessive mitochondrial myopathy, lactic acidosis and sideroblastic anemia syn …
Syndromic MIDs, in which hematological manifestations predominate, are the Pearson syndrome (pancytopenia), Kearns-Sayre syndr …
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Akesson LS, et al. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358953 Free PMC article.
Mitochondrial genome sequencing identified a large mtDNA deletion in both infants, diagnosing Pearson syndrome within 74 and 55 h, respectively. Early diagnosis in the third week of life allowed the avoidance of a range of other investigations and appropriate treatm …
Mitochondrial genome sequencing identified a large mtDNA deletion in both infants, diagnosing Pearson syndrome within 74 and 5 …
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.
Thorburn DR, Dahl HH. Thorburn DR, et al. Am J Med Genet. 2001 Spring;106(1):102-14. doi: 10.1002/ajmg.1380. Am J Med Genet. 2001. PMID: 11579429 Review.
For common mtDNA mutations associated with mitochondrial cytopathies (such as NARP, Leigh Disease, MELAS, MERRF, Leber's Hereditary Optic Neuropathy, CPEO, Kearns-Sayre syndrome, and Pearson syndrome), we summarize the available data on recurrence risk and discuss t …
For common mtDNA mutations associated with mitochondrial cytopathies (such as NARP, Leigh Disease, MELAS, MERRF, Leber's Hereditary Optic Ne …
55 results