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
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
Angaroni, Celia J., Labrune, Philippe, Petit, François, Sastre, Dario, Capra, Ana E., de Kremer, Raquel Dodelson, Argaraña, Carlos E.
Published in Molecular genetics and metabolism (01.05.2006)
Published in Molecular genetics and metabolism (01.05.2006)
Get full text
Journal Article
Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders
Dodelson de Kremer, R, Paschini de Capra, A, Angaroni, C J, Giner de Ayala, A
Published in Medicina (Buenos Aires) (1997)
Get more information
Published in Medicina (Buenos Aires) (1997)
Journal Article