Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

Damien Bonnet, Delphine Martin, Pascale de Lonlay, +5

Circulation

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Fanny Mochel, Perrine Charles, F. Seguin, +10

PLoS ONE

Neurophysiological BiomarkersNeurochemical BiomarkersMetabolic SyndromeAlzheimer's DiseaseNeurology +17

Mevalonate Kinase Deficiency: A Survey of 50 Patients

Brigitte Bader‐Meunier, Benoît Florkin, Jean Sibilia, +18

PEDIATRICS

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Thomas Bourgeron, Dominique Chrétien, Jo Poggi-Bach, +7

Journal of Clinical Investigation

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationFumarase Gene +15

Clinical aspects of mitochondrial disorders

Arnold Münnich, Pierre Rustin, Agnès Rötig, +9

Journal of Inherited Metabolic Disease

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

Ronald J. A. Wanders, Lodewijk IJlst, F Poggi, +5

Biochemical and Biophysical Research Communications

Metabolic SyndromeMetabolic DisorderMitochondrial FunctionBiochemistryMitochondrial Dynamic +6

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

Jean-Jacques Brière, Judith Favier, Paule Bénit, +6

Human Molecular Genetics

Molecular BiologyPathologyMitochondrial BiologyCancer BiologyRedox Biology +18

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients

K. Michael Gibson, Ernst Christensen, Cornelis Jakobs, +23

PEDIATRICS

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

Stéphane Romano, Vassili Valayannopoulos, Guy Touati, +5

The Journal of Pediatrics

TransplantationHepatologyKidney TransplantationPhysiologyLiver Transplantation +2

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy

Fanny Mochel, Pascale Delonlay, Guy Touati, +5

Molecular Genetics and Metabolism

Metabolic SyndromeNutritionEnergy MetabolismPyruvate Carboxylase DeficiencyBiochemistry +11