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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Detalles Bibliográficos
Autores principales: Petropoulos, Taylor E, Ramirez, Maria Erika, Granton, John, Licht, Christoph, John, Rohan, Moayedi, Yasbanoo, Morel, Chantal F, McQuillan, Rory F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007252/
https://www.ncbi.nlm.nih.gov/pubmed/29942494
http://dx.doi.org/10.1093/ckj/sfx119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007252/
https://www.ncbi.nlm.nih.gov/pubmed/29942494
http://dx.doi.org/10.1093/ckj/sfx119

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