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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...

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Bibliografiset tiedot
Julkaisussa:BMC Pediatr
Päätekijät: Wen, Ling-yi, Guo, Ying-kun, Shi, Xiao-qing
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7243308/
https://ncbi.nlm.nih.gov/pubmed/32443968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02130-9
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