Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference9 articles.
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2. Technical standards and guidelines for the diagnosis of biotinidase deficiency;Cowan;Genet Med,2010
3. Holocarboxylase synthetase: a moonlighting transcriptional coregulator of gene expression and a cytosolic regulator of biotin utilization;León-Del-Río;Annu Rev Nutr,2017
4. Clinical analysis and long-term follow-up of multiple carboxylase deficiency in 15 children;Li;Chin J Appl Clin Pediatr,2014
5. Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency;Ye;J Inherit Metab Dis,2009
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