Cargando…
A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome
INTRODUCTION: Arteriovenous Pearson syndrome is a very rare multisystemic mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic insufficiency. It is usually fatal in infancy. CASE REPORT: We reported a four-month-old infant presented with fever and pancytopenia. Bone ma...
Autores principales: | Khasawneh, Rame, Alsokhni, Hala, Alzghoul, Bayan, Momani, Asim, Abualsheikh, Nazih, Kamal, Nazmi, Qatawneh, Mousa, Abbasi, Nabeeha |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Academy of Medical Sciences of Bosnia and Herzegovina
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911175/ https://www.ncbi.nlm.nih.gov/pubmed/29736106 http://dx.doi.org/10.5455/medarh.2018.72.148-150 |
Ejemplares similares
-
mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome
por: Arzanian, Mohammad Taghi, et al.
Publicado: (2010) -
Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report
por: Liu, Rui, et al.
Publicado: (2021) -
In-depth understanding of Pearson syndrome arising from a novel large mitochondrial DNA deletion in an infant case
por: Liu, Rui, et al.
Publicado: (2021) -
Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome
por: Finsterer, Josef, et al.
Publicado: (2018) -
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome
por: Hernández-Ainsa, Carmen, et al.
Publicado: (2022)