Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

Author:

Suormala T. M.,Baumgartner E. R.,Wick H.,Scheibenreiter S.,Schweitzer S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 37 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. Biotin-Responsive Disorders;Inborn Metabolic Diseases;2022

2. Organic Acids;Volpe's Neurology of the Newborn;2018

3. The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know;International Journal of Neonatal Screening;2016-10-28

4. Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn;Journal of Pediatric Endocrinology and Metabolism;2016-01-01

5. Biotin-responsive Disorders;Inborn Metabolic Diseases;2016

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