Search Results - "BOUCLY, C"

Thérapies enzymatiques substitutives des maladies lysosomales by Germain, D.P., Boucly, C., Carlier, R.Y., Caudron, E., Charlier, P., Colas, F., Jabbour, F., Martinez, V., Mokhtari, S., Orlikowski, D., Pellegrini, N., Perronne, C., Prigent, H., Rubinsztajn, R., Benistan, K.

“…L’extraction et la purification à partir de placenta humain d’une β-glucosidase acide (alglucérase) pour le traitement de la maladie de Gaucher, remplacée…”
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Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study by Hagège, Albert A, Caudron, Eric, Damy, Thibaud, Roudaut, Raymond, Millaire, Alain, Etchecopar-Chevreuil, Caroline, Tran, Thi-Chien, Jabbour, Firas, Boucly, Catherine, Prognon, Patrice, Charron, Philippe, Germain, Dominique P

“…Patients with Fabry disease (FD) show left ventricular hypertrophy (LVH) mimicking hypertrophic cardiomyopathy (HCM) of sarcomeric origin and might benefit, if…”
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Enzyme replacement therapy of lysosomal storage diseases by Germain, D P, Boucly, C, Carlier, R Y, Caudron, E, Charlier, P, Colas, F, Jabbour, F, Martinez, V, Mokhtari, S, Orlikowski, D, Pellegrini, N, Perronne, C, Prigent, H, Rubinsztajn, R, Benistan, K

“…Extraction and purification of an acid β-glucosidase from human placenta (alglucerase) for the treatment of Gaucher disease, replaced a few years later by a…”
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Voltamperometric and spectroscopic studies of the behavior of manganese(II) and manganese(III) porphyrins with dioxygen and superoxide. Evidence for the formation of mixed-valence dimeric manganese porphyrin by Perree-Fauvet, M, Gaudemer, A, Bonvoisin, J, Girerd, J. J, Boucly-Goester, C, Boucly, P

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Immunoglobulin A levels in bronchial samples during mechanical ventilation and onset of nosocomial pneumonia in critically ill patients by Annane, D, Clair, B, Mathieu, B, Boucly, C, Lesieur, O, Donetti, L, Gatey, M, Raphael, J C, Gajdos, P

“…Local immunoglobulins play a key role in host defense against lung infection. We investigated the pattern of evolution of bronchial albumin, IgA, and IgG…”
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An improved method for the detection of the thermolabile variant of methylenetetrahydrofolate reductase by VAN AMERONGEN, G, MATHONNET, F, BOUCLY, C, MATHIEU, B, VINATIER, I, PELTIER, J.-Y, CATHERINE, N, COLLET, C, DE MAZANCOURT, P

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Pharmacokinetic studies of ambenonium chloride in patients with myasthenia gravis by THARASSE-BLOCH, C, CHABENAT, C, BOUCLY, P, MARCHAND, J, ELKHARRAT, D, BOUCLY-GOESTER, C, GAJDOS, P

“…Serum levels of ambenonium chloride (AC) were monitored in 4 myasthenic patients. This determination revealed important intraindividual variations (up to…”
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Structural studies of metalloporphyrins. 7. Proton NMR and electrochemical investigation of the (meso-5,10,15,20-tetraarylporphine)cobalt(III) complexes XCoIII(TPP-p-R) by Huet, J, Gaudemer, A, Boucly-Goester, C, Boucly, P

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An Improved Method for the Detection of the G20210A Transition in the Prothrombin Gene by Raoul, Magali, Mathonnet, Florence, Peltier, Jean-Yves, Collet, Catherine, Boucly, Catherine, Van Amerongen, Geneviève, Mathieu, Bertille, Jaouen, Envel, de Mazancourt, Philippe

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Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy by Ravard-Goulvestre, C, Boucly, C, Mathieu, B, Van Amerongen, G, Viollet, L, Estournet, B, Barois, A, de Mazancourt, P

“…The SMN1 gene is homozygously deleted for at least exon 7, interrupted or converted to a non-functional telomeric copy in most cases of proximal spinal…”
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A simplified method for the detection of Y chromosome microdeletions in infertile men using a multiplex sequence-tagged site-based amplification by Charpenel, Christine, Guillon, Anne-Sophie, Dorson, Olivier, Boucly, Catherine, Mathieu, Bertille, Montagnon, Martine, Merlet, Françoise, Van Amerongen, Geneviève, Bisson, Jean Pierre, de Mazancourt, Philippe

“…Sixteen sequence-tagged sites (STSs) were combined in five amplification reactions, to screen for deletions of DNA fragments located within the AZFa, AZFb, and…”
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Influence of postmortem delay and duration of refrigeration on intra-ocular concentration of potassium by Barres, D R, Durigon, M, Chadly, A, Paraire, F, Mathieu, B, Boucly-Goester, C

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