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

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

S. B. van der Meer, F Poggi, Marco Spada, +11

The Journal of Pediatrics

Vitamin NutritionTranslational MedicineHematologyClinical NutritionVitamin B Complex +4

Clinical outcome and long-term management of 17 patients with propionic acidaemia

S. B. van der Meer, F Poggi, Marco Spada, +11

European Journal of Pediatrics

Electrolyte DisorderPropionic AcidaemiaGastroenterologyLong-term ManagementMedicine +3

Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease

Philippe Jouvet, F Poggi, Daniel Rabier, +5

Journal of Inherited Metabolic Disease

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases

Christine Bodemer, Y. De Prost, Bertrand Bachollet, +4

British Journal of Dermatology

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

C. Marsac, Chantal Benelli, Isabelle Desguerre, +9

Human Genetics

Metabolic DisorderBiochemistryGenetic DisorderGeneticsPhysiology +5

Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism

D. Sbaï, C. Narcy, GN Thompson, +4

American Journal of Clinical Nutrition

Metabolic SyndromePropionate MetabolismEnergy MetabolismMetabolic DisorderBiochemistry +9

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

Linda De Meırleır, Willy Lissens, Chantal Benelli, +7

Pediatric Research

Aberrant SplicingNatural SciencesGeneticsGenetic DisorderMolecular Biology +6

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

Marc Espeel, Hanna Mandel, F Poggi, +6

Hepatology

Peroxisomal Deficiency DisordersFibrosisPeroxisomal DeficiencyHepatologyElectron Microscopy +12

Defect in the X-Lipoyl-Containing Component of the Pyruvate Dehydrogenase Complex in a Patient With a Neonatal Lactic Acidemia

Valérie Geoffroy, F. Fouque, Chantal Benelli, +6

PEDIATRICS

Pdh ComplexPathologyDermatologyHematologyHealth Sciences +14