Search Results - "Divry, P."

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria by HOFFMANN, G. F, CHARPENTIER, C, TREFZ, F. K, RATING, D, BREMER, H. J, NYHAN, W. L, MAYATEPEK, E, MANCINI, J, LEICHSENRING, M, GIBSON, K. M, DIVRY, P, HREBICEK, M, LEHNERT, W, SARTOR, K

“…Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the…”
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Seventeen novel mutations that cause profound biotinidase deficiency by Wolf, B, Jensen, K, Hüner, G, Demirkol, M, Baykal, T, Divry, P, Rolland, M.-O, Perez-Cerdá, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, E.R, Suormala, T, Scholl, S, Das, A.M, Schweitzer, S, Pronicka, E, Sykut-Cegielska, J

“…We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are…”
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Combined liver-kidney transplantation in primary hyperoxaluria type 1 by Cochat, P, Gaulier, J M, Koch Nogueira, P C, Feber, J, Jamieson, N V, Rolland, M O, Divry, P, Bozon, D, Dubourg, L

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder characterised by an increased urinary excretion of calcium oxalate, leading to…”
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A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency by Touma, E H, Rashed, M S, Vianey-Saban, C, Sakr, A, Divry, P, Gregersen, N, Andresen, B S

“…A patient with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is reported. He had a severe neonatal presentation and cardiomyopathy. He was found to…”
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Mevalonic aciduria and hyper‐IgD syndrome: Two sides of the same coin? by Tsimaratos, M., Kone‐Paut, I., Divry, P., Philip, N., Chabrol, B.

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N-acetylaspartylglutamate in Canavan disease : an adverse effector? by BURLINA, A. P, FERRARI, V, DIVRY, P, GRADOWSKA, W, JAKOBS, C, BENNETT, M. J, SEWELL, A. C, DIONISI-VICI, C, BURLINA, A. B

“…We measured N-acetylaspartate and its precursor/product N-acetylaspartylglutamate (NAAG) in urine of patients with Canavan disease using capillary zone…”
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Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry by Vianey‐Saban, C., Guffon, N., Delolne, F., Guibaud, P., Mathieu, M., Divry, P.

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An adult form of L-2-hydroxyglutaric aciduria revealed by tremor by Clerc, C, Bataillard, M, Richard, P, Divry, P, Kraehenbuhl, J, Rumbach, L

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Succinyl‐CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies by Rolland, M. O., Guffon, N., Mandon, G., Divry, P.

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Determination of total fatty acids in plasma: cis‐5‐Tetradecenoic acid (C14:1ω‐9) in the diagnosis of long‐chain fatty acid oxidation defects by Divry, P., Vianey‐Saban, C., Mathieu, M.

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Plasma free fatty acids in mitochondrial fatty acid oxidation defects by Martı́nez, G, Jiménez-Sánchez, G, Divry, P, Vianey-Saban, C, Riudor, E, Rodés, M, Briones, P, Ribes, A

“…Plasma free fatty acid profiles from patients suffering from various mitochondrial ß-oxidation deficiencies were analyzed by gas chromatography–mass…”
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Antenatal expression of multiple acyl‐CoA dehydrogenase deficiency by Vianey‐Saban, C., Bouvier, R., Cochat, P., Buenerd, A., Divry, P., Dumoulin, R., Cordier, M. P.

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The mutational spectrum in very long‐chain acyl‐CoA dehydrogenase deficiency by Andresen, B. S., Vianey‐Saban, C., Bross, P., Divry, P., Roe, C. R., Nada, M. A., Knudsen, I., Gregersen, N.

“…Conclusion We have shown that all of seven unrelated patients with defective palmitoyl‐CoA dehydrogenation have mutations in VLCAD, indicating that they suffer…”
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The inborn errors of mitochondrial fatty acid oxidation by Vianey‐Liaud, C., Divry, P., Gregersen, N., Mathieu, M.

“…To date, seven inborn errors of mitochondrial fatty acid oxidation have been identified. A total of about 100 patients in the world have been reported…”
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l‐2‐Hydroxyglutaric aciduria: Two further cases by Divry, P., Jakobs, C., Vianey‐Saban, C., Gibson, K. M., Michelakakis, H., Papadimitriou, A., Divari, R., Chabrol, B., Cournelle, M. A., Livet, M. O.

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2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case by Guffon, N., Lopez‐Mediavilla, C., Dumoulin, R., Mousson, B., Godinot, C., Carrier, H., Collombet, J. M., Divry, P., Mathieu, M., Guibaud, P.

“…Summary Two new familial cases of 2‐ketoglutarate dehydrogenase (2‐KGD) deficiency are reported: a girl who died at 10 years and a boy, still alive at 4 years,…”
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Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis by Bennett, M. J., Gibson, K. M., Sherwood, W. G., Divry, P., Rolland, M. O., Elpeleg, O. N., Rinaldo, P., Jakobs, C.

“…Summary Prenatal diagnosis has been undertaken in 17 pregnancies in 15 families at risk for aspartoacylase deficiency. Amniocentesis was at 14–18 weeks…”
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Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia by VIANEY-SABAN, C, MOUSSON, B, BERTRAND, C, STAMM, D, DUMOULIN, R, ZABOT, M. T, DIVRY, P, FLORET, D, MATHIEU, M

“…An apparently healthy girl aged 2 years 9 months developed a coma with hepatomegaly within 24 h after an influenza-like infection. Plasma glucose and urinary…”
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Lethal dilated cardiomyopathy due to long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency by Martins, E., Costa, A., Silva, E., Medina, M., Cardoso, M. L., Vianey‐Saban, C., Divry, P., Vilarinho, L.

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Stable‐isotope selected‐ion monitoring quantification of methylmalonic acid in dried filter‐paper urine samples by Parnet, J. M., Divry, P., Vianey‐Saban, C., Mathieu, M.

“…Summary Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable‐isotope gas chromatography—mass spectrometry in 24 urine…”
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