Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook
Angaroni, Celia J, Giner-Ayala, Alicia N, Hill, Lorena P, Guelbert, Norberto B, Paschini-Capra, Ana E, de Kremer, Raquel Dodelson
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
Get full text
Journal Article
Conference Proceeding
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability
Angaroni, Celia J., de Kremer, Raquel Dodelson, Argaraña, Carlos E., Paschini-Capra, Ana E., Giner-Ayala, Alicia N., Pezza, Roberto J., Pan, Chi-Jiunn, Chou, Janice Y.
Published in Molecular genetics and metabolism (01.11.2004)
Published in Molecular genetics and metabolism (01.11.2004)
Get full text
Journal Article