Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria

BACKGROUND: Cobalamin metabolism disorders are rare, inherited diseases which cause megaloblastic anaemia and other clinical manifestations. Early diagnosis of these conditions is essential, in order to allow appropriate treatment as early as possible. CASE PRESENTATION: Here we report the case of a...

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Detalles Bibliográficos
Autores principales: Grandone, Elvira, Martinelli, Pasquale, Villani, Michela, Vecchione, Gennaro, Fischetti, Lucia, Leccese, Angelica, Santacroce, Rosa, Corso, Gaetano, Margaglione, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716909/
https://www.ncbi.nlm.nih.gov/pubmed/31470807
http://dx.doi.org/10.1186/s12884-019-2474-5

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