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Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
BACKGROUND: Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B(12) metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare and easily misdiagnosed because of limited aware...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243308/ https://www.ncbi.nlm.nih.gov/pubmed/32443968 http://dx.doi.org/10.1186/s12887-020-02130-9 |