Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

Author:

Sakamoto Osamu,Suzuki Yoichi,Li Xue,Aoki Yoko,Hiratsuka Masahiro,Suormala Terttu,Baumgartner E Regula,Gibson K Michael,Narisawa Kuniaki

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Cited by 34 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. Cofactors and Coenzymes | Biotin;Encyclopedia of Biological Chemistry III;2021

3. Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review;Journal of Pediatric Endocrinology and Metabolism;2020-11-26

4. Inherited biotin-responsive disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

5. Disorders of vitamins and cofactors;Biomarkers in Inborn Errors of Metabolism;2017

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