Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previously reported, caused by a spectrum of 10 mutations...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Bizjak, Neli, Zerjav Tansek, Mojca, Avbelj Stefanija, Magdalena, Repic Lampret, Barbka, Mezek, Ajda, Drole Torkar, Ana, Battelino, Tadej, Groselj, Urh
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7718479/
https://ncbi.nlm.nih.gov/pubmed/33304818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100691
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