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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Bibliografiska uppgifter
I publikationen:Clin Kidney J
Huvudupphovsmän: Petropoulos, Taylor E, Ramirez, Maria Erika, Granton, John, Licht, Christoph, John, Rohan, Moayedi, Yasbanoo, Morel, Chantal F, McQuillan, Rory F
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2018
Ämnen:
Rare Diseases
Länkar: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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