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About 122 results

ALLMedicine™ Pearson Syndrome Center

Research & Reviews  61 results

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.
https://doi.org/10.1002/pbc.28799
Pediatric Blood & Cancer REFERENCES; Nishimura A, Hirabayashi S et. al.

Nov 17th, 2020 - Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia...

A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
https://clinicaltrials.gov/ct2/show/NCT03384420

Mar 25th, 2020 - Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes. These diseases may be inherited from the mother (mitochondr...

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183758
American Journal of Medical Genetics. Part A; Wild KT, Goldstein AC et. al.

Dec 11th, 2019 - Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large-scale mitochondrial DNA (mtDNA) deletion. PS clas...

Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction a...
https://doi.org/10.3928/01913913-20190813-01
Journal of Pediatric Ophthalmology and Strabismus; Patel NA, Han E et. al.

Oct 17th, 2019 - Retinopathy of prematurity (ROP) is a biphasic disease in which the first phase is characterized by high oxygen tension leading to vaso-obliteration in the retina. Pearson syndrome is a rare multisystem mitochondrial disease with a defect in cellu...

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochon...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871088
European Journal of Human Genetics : EJHG; Akesson LS, Eggers S et. al.

Jul 30th, 2019 - Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clinical-grade mitochondrial genome sequencing and may fail to diagnose mitochondrial disorders caused by mitochondrial D...

see more →

Clinicaltrials.gov  61 results

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.
https://doi.org/10.1002/pbc.28799
Pediatric Blood & Cancer REFERENCES; Nishimura A, Hirabayashi S et. al.

Nov 17th, 2020 - Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia...

A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
https://clinicaltrials.gov/ct2/show/NCT03384420

Mar 25th, 2020 - Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes. These diseases may be inherited from the mother (mitochondr...

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183758
American Journal of Medical Genetics. Part A; Wild KT, Goldstein AC et. al.

Dec 11th, 2019 - Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large-scale mitochondrial DNA (mtDNA) deletion. PS clas...

Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction a...
https://doi.org/10.3928/01913913-20190813-01
Journal of Pediatric Ophthalmology and Strabismus; Patel NA, Han E et. al.

Oct 17th, 2019 - Retinopathy of prematurity (ROP) is a biphasic disease in which the first phase is characterized by high oxygen tension leading to vaso-obliteration in the retina. Pearson syndrome is a rare multisystem mitochondrial disease with a defect in cellu...

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochon...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871088
European Journal of Human Genetics : EJHG; Akesson LS, Eggers S et. al.

Jul 30th, 2019 - Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clinical-grade mitochondrial genome sequencing and may fail to diagnose mitochondrial disorders caused by mitochondrial D...

see more →