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Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency

Cobalamin C (cblC) deficiency is the most commonly inherited inborn error of vitamin B12 metabolism. It is characterized by multisystem involvement with severe neurological, hematological, renal and cardiopulmonary manifestations. Disease is most commonly diagnosed early in the first decade of life....

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Detalhes bibliográficos
Publicado no:Clin Kidney J
Main Authors: Petropoulos, Taylor E, Ramirez, Maria Erika, Granton, John, Licht, Christoph, John, Rohan, Moayedi, Yasbanoo, Morel, Chantal F, McQuillan, Rory F
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6007252/
https://ncbi.nlm.nih.gov/pubmed/29942494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfx119
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