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Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

BACKGROUND: Fanconi–Bickel syndrome is an autosomal recessive disorder of glucose metabolism. It is an extremely rare disorder. Most cases have been reported in consanguineous communities. None of the cases have been reported in Black Africans in sub-Saharan Africa. This case was diagnosed 3 years a...

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Detalles Bibliográficos
Autores principales: Piloya, Thereza, Ssematala, Hawa, Dramani, Lydia Paparu, Nalikka, Oliva, Baluka, Miriam, Musiime, Victor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526154/
https://www.ncbi.nlm.nih.gov/pubmed/32993803
http://dx.doi.org/10.1186/s13256-020-02488-5