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, +5

Hepatology

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, +11

Pediatric Research

CardiomyopathySuccessful TreatmentInherited Metabolic DiseaseDiabetesHigh-protein Diet +3

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

Anne Spraul, Christiane Baussan, B. Hermeziu, +2

Journal of Pediatric Gastroenterology and Nutrition

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomics +15

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

Pascal Laforêt, Pascale Richard, Mina Ait Saïd, +9

Neuromuscular Disorders

New MutationCardiac MuscleCardiomyopathyGenetic DisorderGenetics +8

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, +5

The American Journal of Human Genetics

Somatic VariantHepatologyGenetic DisorderMedicineLiver Physiology +8

Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Anne Davit–Spraul, Monique Piraud, Dries Dobbelaere, +6

Molecular Genetics and Metabolism

HepatologyBiochemistryDiagnosis ThanksLiver PhysiologyDiabetes +7

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

Irène Maire, Christiane Baussan, N. Moatti, +2

Clinical Biochemistry

Hepatic DisordersHepatologyBiochemistryLiver PhysiologyBioanalysis +11

Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

Camille Jung, Catherine Driancourt, Christiane Baussan, +5

Journal of Pediatric Gastroenterology and Nutrition

Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations

Anne Davit–Spraul, Cathérine Costa, Mokhtar Zater, +7

Molecular Genetics and Metabolism

New MutationsMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +7

P0188 SRD5B1 (AKR1D1) GENE ANALYSIS IN DELTA4???3-OXOSTEROID 5BETA-REDUCTASE DEFICIENCY: EVIDENCE FOR PRIMARY GENETIC DEFECT

Emmanuel Gonzalès, Danièle Cresteil, Christiane Baussan, +3

Journal of Pediatric Gastroenterology and Nutrition

Primary Genetic DefectGeneticsMolecular BiologyPathologyGene Characterization +25