Associated Papers
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.
Rodríguez-García MI et al.
Bmc Medical Genetics, 2010
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.
Song YZ et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
[Citrin deficiency is an important etiology for cholestatic liver disease in children].
Song YZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Karageorgos L et al.
Molecular Genetics and Metabolism, 2007
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].
Song YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2006
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