Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy. The estimated prevalence (...

Descripción completa

Detalles Bibliográficos
Autores principales: De Filippo, Gianpaolo, Rendina, Domenico, Rocco, Vincenzo, Esposito, Teresa, Gianfrancesco, Fernando, Strazzullo, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848621/
https://www.ncbi.nlm.nih.gov/pubmed/24044590
http://dx.doi.org/10.1186/1824-7288-39-58

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848621/
https://www.ncbi.nlm.nih.gov/pubmed/24044590
http://dx.doi.org/10.1186/1824-7288-39-58

Ejemplares similares