Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report

• Main Authors: Na Tao (Author), Xiaomei Liu (Author), Yueqi Chen (Author), Meiyuan Sun (Author), Fang Xu (Author), Yanfang Su (Author)
• פורמט: ספר
• יצא לאור: BMC, 2022-09-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Xp21 contiguous gene deletion syndrome is a rare genetic metabolic disorder with poor prognosis in infants, involving deletions of one or more genes in Xp21. When deletions of adrenal hypoplasia (AHC), Duchenne muscular dystrophy (DMD), and chronic granulomatosis (CGD) loci are i...