Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

Christine Vianey‐Saban, P. Divry, M. Brivet, +4

Clinica Chimica Acta

Aldehyde DehydrogenaseMitochondrial FunctionBiochemistryMedicineGenetics +6

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

C. Bertrand, C Largillière, Marie Thérèse Zabot, +2

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Aldehyde DehydrogenaseMitochondrial FunctionBiochemistryGeneticsPhysiology +6

Diagnosis of alcaptonuria: Rapid analysis of homogentisic acid by HPLC

C. Bory, Roselyne Boulieu, Christiane Chantin, +1

Clinica Chimica Acta

MedicineUrologyClinical ChemistryHomogentisic Acid

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 DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Mohamed A. Nada, Christine Vianey‐Saban, Charles R. Roe, +6

Prenatal Diagnosis

Vlcad DeficiencyOxidative StressMitochondrial BiogenesisTandem Mass SpectrometryMetabolism +14

<i>In vitro</i> culture of clonogenic leukaemic cells in acute myeloid leukaemia: growth pattern and drug sensitivity

Jean‐Pierre Marie, R Zittoun, D Thevenin, +2

British Journal of Haematology

Hunter syndrome: Gene deletions and rearrangements

Roseline Froissart, Jean-Luc Blond, Irène Maire, +4

Human Mutation

Mendelian DisorderGenetic DisorderGeneticsEvolutionary BiologyMolecular Genetics +2

Atrazine in Plasma and Tissue Following Atrazine-Aminotriazole-Ethylene Glycol-Formaldehyde Poisoning

Jean Pommery, Monique Mathieu, Daniel Mathieu, +1

Journal of Toxicology Clinical Toxicology

The use of peritoneoscopy in the detection of liver metastases

Harry Bleiberg, Marcel Rozencweig, Monique Mathieu, +3

Cancer

Surgical OncologyPositive PeritoneoscopyHepatologyLiver InvolvementMedicine +13

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts

C. Bertrand, Renée Dumoulin, P. Divry, +2

Clinica Chimica Acta

Electron Transfer FlavoproteinAldehyde DehydrogenaseBiochemistryMitochondrial FunctionLiver Physiology +12