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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Veröffentlicht in:BMC Pregnancy Childbirth
Hauptverfasser: Grandone, Elvira, Martinelli, Pasquale, Villani, Michela, Vecchione, Gennaro, Fischetti, Lucia, Leccese, Angelica, Santacroce, Rosa, Corso, Gaetano, Margaglione, Maurizio
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2019
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6716909/
https://ncbi.nlm.nih.gov/pubmed/31470807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12884-019-2474-5
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