Pearson syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2018.1426454
Abstract: ABSTRACT Introduction: 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. Areas covered: This review presents an… read more here.
Keywords: pearson syndrome; pearson; hematology;
Clinical and genetic features of four patients with Pearson syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028793
Abstract: Abstract 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… read more here.
Keywords: clinical genetic; pearson syndrome; four patients; patients pearson ... See more keywords
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure.
Sign Up to like & getrecommendations! Published in 2017 at "Blood"
DOI: 10.1182/blood-2017-02-766881
Abstract: ![Figure][1] A 3-month-old boy presented with decreased appetite, fatigue, and a nosebleed. Initial workup revealed hemoglobin 2.6 g/dL (10.2-12.7), hematocrit 7.7% (30.9-37.9), mean corpuscular volume 104 fL (71.3-82.6), white blood cell count 4200/μL (240 absolute… read more here.
Keywords: infant pearson; syndrome rare; congenital sideroblastic; cause congenital ... See more keywords
Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "BMB reports"
DOI: 10.5483/bmbrep.2022-0204
Abstract: Screening for genetic defects in the cells should be examined for clinical application. The Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes, which could induce systemic large-scale mitochondrial genome (mtDNA)… read more here.
Keywords: mtdna deletion; deletion; pearson syndrome; autologous cell ... See more keywords
[A regenerative anemia in infants: 2 cases of Pearson´s syndrome].
Sign Up to like & getrecommendations! Published in 2017 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2017.e24
Abstract: Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone… read more here.
Keywords: infants cases; anemia; regenerative anemia; cases pearson ... See more keywords