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Select item 104714631.

Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome

Yeonmi Lee, Jongsuk Han, Sae-Byeok Hwang, Soon-Suk Kang, Hyeoung-Bin Son, Chaeyeon Jin, Jae Eun Kim, Beom Hee Lee, Eunju Kang

BMB Rep. 2023 Aug 31; 56(8): 463–468. Published online 2023 May 23. doi: 10.5483/BMBRep.2022-0204

PMCID:: PMC10471463

Article PDF–5.1M

Select item 99386772.

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis

Celeste Shoeleh, Umberto M Donato, Andrew Galligan, Julie Vitko

Cureus. 2023 Jan; 15(1): e33963. Published online 2023 Jan 19. doi: 10.7759/cureus.33963

PMCID:: PMC9938677

Article PDF–316K

Select item 95752593.

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer, Sarah C. Grünert

Orphanet J Rare Dis. 2022; 17: 379. Published online 2022 Oct 17. doi: 10.1186/s13023-022-02538-9

PMCID:: PMC9575259

Article PDF–1.6M

Select item 91684604.

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

Yanqin Ying, Yan Liang, Xiaoping Luo, Ming Wei

Front Genet. 2022; 13: 802402. Published online 2022 May 23. doi: 10.3389/fgene.2022.802402

PMCID:: PMC9168460

Article PDF–1.2M

Select item 89061705.

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

Carmen Hernández-Ainsa, Ester López-Gallardo, María Concepción García-Jiménez, Francisco José Climent-Alcalá, Carmen Rodríguez-Vigil, Marta García Fernández de Villalta, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador

Dis Model Mech. 2022 Mar 1; 15(3): dmm049083. Published online 2022 Mar 1. doi: 10.1242/dmm.049083

PMCID:: PMC8906170

Article

Select item 88126676.

Clinical and genetic features of four patients with Pearson syndrome: An observational study

Ji Soo Son, Go Hun Seo, Yoon-Myung Kim, Gu-Hwan Kim, Hee Kyung Jin, Jae-sung Bae, Ho Joon Im, Han-Wook Yoo, Beom Hee Lee

Medicine (Baltimore) 2022 Feb 4; 101(5): e28793. Published online 2022 Feb 4. doi: 10.1097/MD.0000000000028793

PMCID:: PMC8812667

Article PDF–1.3M

Select item 78822797.

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

Rui Liu, Gui-Ling Mo, Yuan-Zong Song

Transl Pediatr. 2021 Jan; 10(1): 204–208. doi: 10.21037/tp-20-138

PMCID:: PMC7882279

Article PDF–545K

Select item 71837588.

Broadening the phenotypic spectrum of Pearson Syndrome: Five new cases and a review of the literature

K. Taylor Wild, Amy C. Goldstein, Colleen Muraresku, Rebecca D. Ganetzky

Am J Med Genet A. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Am J Med Genet A. 2020 Feb; 182(2): 365–373. Published online 2019 Dec 11. doi: 10.1002/ajmg.a.61433

PMCID:: PMC7183758

Article PDF–489K

Select item 69622629.

Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis

Jyothi Muni Reddy, Joe Jose, Anand Prakash, Shanthala Devi

Sudan J Paediatr. 2019; 19(2): 161–164. doi: 10.24911/SJP.106-1534158413

PMCID:: PMC6962262

Article PDF–850K

Select item 687108810.

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Lauren S. Akesson, Stefanie Eggers, Clare J. Love, Belinda Chong, Emma I. Krzesinski, Natasha J. Brown, Tiong Y. Tan, Christopher M. Richmond, David R. Thorburn, John Christodoulou, Matthew F. Hunter, Sebastian Lunke, Zornitza Stark

Eur J Hum Genet. 2019 Dec; 27(12): 1821–1826. Published online 2019 Jul 29. doi: 10.1038/s41431-019-0477-3

PMCID:: PMC6871088

Article PDF–583K

Select item 591117511.

A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome

Rame Khasawneh, Hala Alsokhni, Bayan Alzghoul, Asim Momani, Nazih Abualsheikh, Nazmi Kamal, Mousa Qatawneh, Nabeeha Abbasi

Med Arch. 2018 Apr; 72(2): 148–150. doi: 10.5455/medarh.2018.72.148-150

PMCID:: PMC5911175

Article PDF–547K

Select item 506645612.

Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature

Rachael M. Hiebert, Robert C. Welliver, Zhongxin Yu

Open Forum Infect Dis. 2016 Oct; 3(4): ofw183. Published online 2016 Oct 7. doi: 10.1093/ofid/ofw183

PMCID:: PMC5066456

Article PDF–284K

Select item 486477413.

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Piero Farruggia, Andrea Di Cataldo, Rita M. Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo, Maria E. Cantarini, Assunta Tornesello, Paola Corti, Francesca Fioredda, Stefania Varotto, Baldo Martire, Isabella Moroni, Giuseppe Puccio, Giovanna Russo, Carlo Dufour, Marta Pillon

JIMD Rep. 2016; 26: 37–43. Published online 2015 Aug 4. doi: 10.1007/8904_2015_470

PMCID:: PMC4864774

Article PDF–178K

Select item 410270514.

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

Blood. 2014 Jul 17; 124(3): 312–313. doi: 10.1182/blood-2014-04-571687

PMCID:: PMC4102705

Article

Select item 168274415.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

M A McShane, S R Hammans, M Sweeney, I J Holt, T J Beattie, E M Brett, A E Harding

Am J Hum Genet. 1991 Jan; 48(1): 39–42.

PMCID:: PMC1682744

Summary Page Browse PDF–718K

Select item 37920516.

Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

Sara Shanske, Yingying Tang, Michio Hirano, Yutaka Nishigaki, Kurenai Tanji, Eduardo Bonilla, Carolyn Sue, Sindu Krishna, Jose R. Carlo, Judith Willner, Eric A. Schon, Salvatore DiMauro

Am J Hum Genet. 2002 Sep; 71(3): 679–683. Published online 2002 Jul 31. doi: 10.1086/342482

PMCID:: PMC379205

Article PDF–164K

Select item 766736317.

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Vanessa Sabella‐Jiménez, Carlos Otero‐Herrera, Carlos Silvera‐Redondo, Pilar Garavito‐Galofre

Mol Genet Genomic Med. 2020 Nov; 8(11): e1509. Published online 2020 Oct 8. doi: 10.1002/mgg3.1509

PMCID:: PMC7667363

Article PDF–852K

Select item 735888118.

Pearson marrow‐pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation

Mats Steffi Jennifer, Daniel Cortez

Ann Noninvasive Electrocardiol. 2020 Jan; 25(1): e12681. Published online 2019 Sep 1. doi: 10.1111/anec.12681

PMCID:: PMC7358881

Article PDF–400K

Select item 700165019.

Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique

Raghav Vadhul, Caroline S. Halbach, Raymond G. Areaux, Jr., Susan Berry, Joshua H. Hou

Digit J Ophthalmol. 2019 Apr; 25(4): 59–64. Published online 2019 Nov 17. doi: 10.5693/djo.02.2019.09.001

PMCID:: PMC7001650

Article PDF–2.3M

Select item 410271420.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia

Katelyn E. Gagne, Roxanne Ghazvinian, Daniel Yuan, Rebecca L. Zon, Kelsie Storm, Magdalena Mazur-Popinska, Laura Andolina, Halina Bubala, Sydonia Golebiowska, Meghan A. Higman, Krzysztof Kalwak, Peter Kurre, Michal Matysiak, Edyta Niewiadomska, Salley Pels, Mary Jane Petruzzi, Aneta Pobudejska-Pieniazek, Tomasz Szczepanski, Mark D. Fleming, Hanna T. Gazda, Suneet Agarwal

Blood. 2014 Jul 17; 124(3): 437–440. Prepublished online 2014 Apr 15. doi: 10.1182/blood-2014-01-545830