Urinary cystatin C as a specific marker of tubular dysfunction

Marc Conti, Stéphane Moutereau, Mokhtar Zater, +5

Clinical Chemistry and Laboratory Medicine (CCLM)

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Apolline Imbard, Audrey Boutron, Christiane Vequaud, +8

Molecular Genetics and Metabolism

Molecular CharacterizationAldo-keto ReductaseAldehyde DehydrogenaseE1 ProteinBiochemistry +6

Fructose 1,6‐bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

Élise Lebigot, Anaïs Brassier, Mokhtar Zater, +5

Journal of Inherited Metabolic Disease

Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

Camille Jung, Catherine Driancourt, Christiane Baussan, +5

Journal of Pediatric Gastroenterology and Nutrition

Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma

Caroline Lacombe, Valérie Untereiner, Cyril Gobinet, +3

The Analyst

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

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations

Audrey Boutron, Anna Marabotti, Angelo Facchiano, +6

Molecular Genetics and Metabolism

Allelic VariantSomatic VariantGenetic DisorderGalactosemic PatientsGenetics +8

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Stanley H. Korman, James Pitt, Avihu Boneh, +5

Molecular Genetics and Metabolism

Lethal Carnitine-acylcarnitine TranslocaseDifferent Ethnic OriginNovel Slc25a20Genetic DisorderGenetics +4

First characterization of a large deletion of the PDHA1 gene

M. Brivet, Marie‐Laure Moutard, Mokhtar Zater, +4

Molecular Genetics and Metabolism

Genetic DisorderNatural SciencesPdha1 GeneGeneticsGenomic Mechanism +7

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

Monique Fontaine, Anne‐Frédérique Dessein, Claire Douillard, +10

JIMD Reports