Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report

INTRODUCTION AND IMPORTANCE: Hereditary Folate Malabsorption (HFM) is an extremely rare autosomal recessive disorder with in the existence of only 30 families world-wide. It presents with hematological, gastrointestinal, and neurological problems. CASE PRESENTATION: Three-month-old-boy with a famili...

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Detalles Bibliográficos
Autores principales: Sarhan, Fajr M.A., Jobran, Afnan W.M., Mansour, Islam I.A., Dukmak, Osama N., Rashed, Mohammed A.M., Hamdan, Dina M.A., Abdalhadi, Israa A.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422282/
https://www.ncbi.nlm.nih.gov/pubmed/36045837
http://dx.doi.org/10.1016/j.amsu.2022.104253

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