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Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.
Hsieh, Chu-Han; Lee, Ju; Sung, Hsiang-Hsuan; Huang, Ya-Fang; Ding, Yu-Sian; Li, Chia-Yi; Yen, Chia-Liang; Hsu, Chao-Kai; Yu, Chun-Keung; Hsieh, Hsin-Ying; Hughes, Michael Warren; Chen, Peng-Chieh; Shieh, Chi-Chang.
Affiliation
  • Hsieh CH; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan.
  • Lee J; Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
  • Sung HH; National Laboratory Animal Center, National Applied Research Laboratory, Taipei, Taiwan.
  • Huang YF; National Laboratory Animal Center, National Applied Reasearch Laboratories, Tainan, Taiwan.
  • Ding YS; National Laboratory Animal Center, National Applied Reasearch Laboratories, Tainan, Taiwan.
  • Li CY; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan.
  • Yen CL; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan.
  • Hsu CK; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan; International Research Center for Wound Repair and Regeneration, National Cheng Kung University, Tainan, Taiwan.
  • Yu CK; National Laboratory Animal Center, National Applied Research Laboratory, Taipei, Taiwan; Department of Microbiology and Immunology, Center of Infectious Disease and Signaling Research, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Hsieh HY; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Hughes MW; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan; International Research Center for Wound Repair and Regeneration, National Cheng Kung University, Tainan, Taiwan.
  • Chen PC; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, College of Medicine, National Cheng Kung University Hospital, National Cheng-Kung University, Tainan, Taiwan. Electronic address: pengchic@mail.ncku.edu.tw.
  • Shieh CC; Institute of Clinical Medicine, College of Medicine, National Cheng-Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, College of Medicine, National Cheng Kung University Hospital, National Cheng-Kung University, Tainan, Taiwan; Department of Pediatrics, National Cheng Kung Unive
Clin Immunol ; 257: 109855, 2023 12.
Article in En | MEDLINE | ID: mdl-38036278
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biotin / Biotinidase Deficiency Limits: Animals / Humans Language: En Journal: Clin Immunol Journal subject: ALERGIA E IMUNOLOGIA Year: 2023 Type: Article Affiliation country: Taiwan
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biotin / Biotinidase Deficiency Limits: Animals / Humans Language: En Journal: Clin Immunol Journal subject: ALERGIA E IMUNOLOGIA Year: 2023 Type: Article Affiliation country: Taiwan