The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference28 articles.
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3. Advances in inborn errors of metabolism;Fukao;J. Hum. Genet.,2019
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Cited by 2 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. Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing);Frontiers in Neurology;2023-07-25
2. Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases;Genetics and Molecular Biology;2021
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