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Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation. Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency. GALK activity and the(More)
AFP, CEA, CA125 and CA19-9 are commonly used serum tumour markers (TMs) in clinical practice, although their quantification by immunoassay may be influenced by pre-analytical sample handling. Though the effect of repetitive freeze-thaw cycles is generally recognized, it is not clear in detail. The present study measured (CLIA) these TMs in serum samples(More)
The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH(4)-deficient HPA. The frequency of BH(4)-deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximately 86% of Chinese BH(4)-deficient HPA was found to be caused(More)
X-linked agammaglobulinemia (XLA) or Bruton’s disease is a rare genetic disorder, discovered in 1952, that mitigates the immune response to infections1. Early studies have associated mutations in the Bruton tyrosine kinase (BTK) gene (GDB 120542) with XLA development2,3. The BTK gene, spanning 37.5 kilobases (kb) with 19 exons, is located on the X(More)
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