Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment

Chu-Han Hsieh, Ju Hyoung Lee, Hsiang-Hsuan Sung, Ya‐Fang Huang, Yu-Sian Ding, Chia-Yi Li, Chia‐Liang Yen, Chao‐Kai Hsu, Chun‐Keung Yu, Hsin-Ying Hsieh, Michael W. Hughes, Peng‐Chieh Chen, Chi‐Chang Shieh