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Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B(12)) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly, seizures, developmental delay, ataxia, hypo...

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Detalles Bibliográficos
Autores principales:	Beck, Bodo B., van Spronsen, FrancJan, Diepstra, Arjan, Berger, Rolf M. F., Kömhoff, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2016
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368212/ https://www.ncbi.nlm.nih.gov/pubmed/27289364 http://dx.doi.org/10.1007/s00467-016-3399-0

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