Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BACKGROUND: Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood and urine. Often, combined methylmalonic acid...

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Publicado en:BMC Med Genet
Autores principales: Chen, Ru-Yue, Li, Xiao-Zhong, Lin, Qiang, Zhu, Yun, Shen, Yun-Yan, Xu, Qin-Ying, Zhu, Xue-Ming, Chen, Lin-Qi, Wu, Hai-Ying, Chen, Xu-Qin
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507264/
https://ncbi.nlm.nih.gov/pubmed/32957924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01122-x
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