Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation-Reference-Cited by-同舟云学术

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

Published:2020-12 Issue: Volume:25 Page:100691
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Bizjak Neli,Zerjav Tansek Mojca,Avbelj Stefanija Magdalena,Repic Lampret Barbka,Mezek Ajda,Drole Torkar Ana,Battelino Tadej,Groselj Urh

Funder

Slovenian Research Agency

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference25 articles.

1. Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: a case report and literature review;Tavasoli;Brain Dev.,2017

2. 3-Methylglutaconic aciduria type I is caused by mutations in AUH;Ijlst;Am. J. Hum. Genet.,2002

3. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I;Ly;Hum. Mutat.,2003

4. A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I;Matsumori;Pediatr. Int.,2005

5. 3-Methylglutaconic aciduria type redefined: a syndrome with late-onset leukoencephalopathy;Wortmann;Neurology,2010

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening;Molecular Genetics and Metabolism Reports;2024-03

2. Population structure, genetic diversity and prolificacy in pishan red sheep under an extreme desert environment;Frontiers in Genetics;2023-04-11

3. 3-Methylglutaconic Aciduria;Genetic Syndromes;2023

4. 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature;International Journal of Molecular Sciences;2022-04-16

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