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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Detalles Bibliográficos
Autores principales: Bizjak, Neli, Zerjav Tansek, Mojca, Avbelj Stefanija, Magdalena, Repic Lampret, Barbka, Mezek, Ajda, Drole Torkar, Ana, Battelino, Tadej, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718479/
https://www.ncbi.nlm.nih.gov/pubmed/33304818
http://dx.doi.org/10.1016/j.ymgmr.2020.100691

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718479/
https://www.ncbi.nlm.nih.gov/pubmed/33304818
http://dx.doi.org/10.1016/j.ymgmr.2020.100691

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