Christiane Baussan

Atp8b1 and Abcb11 Analysis in 62 Children With Normal Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis (Pfic): Phenotypic Differences Between Pfic1 and Pfic2 and Natural History

Anne Davit–Spraul, Monique Fabrè, Sophie Branchereau et al. · Hepatology · 2010 · 275 citations · Full text

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

Vassili Valayannopoulos, Fanny Bajolle, Jean‐Baptiste Arnoux et al. · Pediatric Research · 2011 · 118 citations · Full text

Cardiomyopathy, Successful Treatment, Inherited Metabolic Disease +5

<i>CFC1</i> Gene Involvement in Biliary Atresia With Polysplenia Syndrome

Anne Spraul, Christiane Baussan, B. Hermeziu et al. · Journal of Pediatric Gastroenterology and Nutrition · 2008 · 99 citations

Genetics, Pathology, Molecular Genetics +17

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Pascal Laforêt, Pascale Richard, Mina Ait Saïd et al. · Neuromuscular Disorders · 2006 · 61 citations

New Mutation, Cardiac Muscle, Cardiomyopathy +10

Complete Genomic Structure and Mutational Spectrum of PHKA2 in Patients with X-Linked Liver Glycogenosis Type I and II

Jan Hendrickx, Philip Lee, James Keating et al. · The American Journal of Human Genetics · 1999 · 54 citations · Full text

Somatic Variant, Hepatology, Genetic Disorder +10