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Neonatal hemolytic anemia does not always indicate thalassemia: a case report

BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leadi...

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Detalles Bibliográficos
Autores principales: Al-Harazi, Arwa A., Al-Eryani, Bilguis M., Al-Sharafi, Butheinah A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596485/
https://www.ncbi.nlm.nih.gov/pubmed/28899405
http://dx.doi.org/10.1186/s13104-017-2803-6