Article
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.
Journal of inherited metabolic disease - 1 Oct 2010
Angaroni Celia J, Giner-Ayala Alicia N, Hill Lorena P, Guelbert Norberto B, Paschini-Capra Ana E, Dodelson de Kremer Raquel
Abstract excerpt
Repeated evaluation of biotinidase (BTD) activity was carried out for a long-term follow-up in patients with hepatic glycogen storage diseases (GSDs). The results indicated inter-intra variability among the GSD-Ia, GSD-III and GSD-IX patients. In addition, a c.1330G>C transversion in the BTD gene, resulting in a p.Asp444His substitution was detected in one allele of a GSD-Ia patient with sustained normal enzyme...
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