5'nucléotidase

Autor: Pascale Clerc-Renaud

Publikováno v: EMC - Biologie Médicale. 1:1-3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca4a1980f42a025495bccb0b7018b021
https://doi.org/10.1016/s2211-9698(06)76097-6

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome

Autor: François Rivier, Marie-Therese Zabot, Sylvie Padet, Martine Mayençon, Pascale Clerc-Renaud, Maïté Chassagne, Bénédicte Mousson de Camaret, Dominique Bozon, Vincent des Portes, Pierre Sarda, Hervé Crehalet, Isabelle Rouvet

Publikováno v: Mitochondrion
Mitochondrion, Elsevier, 2011, 11 (1), pp.223-7. ⟨10.1016/j.mito.2010.07.011⟩
Mitochondrion, 2011, 11 (1), pp.223-7. ⟨10.1016/j.mito.2010.07.011⟩

International audience; The POLG genes were sequenced in two unrelated patients presenting with Alpers syndrome. The novel c.3626_3629dupGATA and the c.3643+2T>C alleles were associated in trans with p.A467T and p.[W748S;E1143G], respectively. POLG t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::342fea8bf11c86272379cac57ca64362
https://hal.archives-ouvertes.fr/hal-00655294

NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy

Autor: Julien Jung, François Mauguière, Philippe Ryvlin, B. Mousson de Camaret, Pascale Clerc-Renaud, E. Ollagnon

Publikováno v: Neurology. 68(17)

Progressive myoclonic epilepsies (PMEs) are characterized by seizures, epileptic or nonepileptic myoclonus, cerebellar signs, and progressive neurologic deterioration.1 The main causes are Unverricht–Lundborg disease, Lafora disease, myoclonic epil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e75a64151ee2a736b0850c229da9e2
https://pubmed.ncbi.nlm.nih.gov/17452590

IFCC primary reference procedures for the measurement of catalytic activity concentrations of enzymes at 37 degrees C. International Federation of Clinical Chemistry and Laboratory Medicine. Part 7. Certification of four reference materials for the determination of enzymatic activity of gamma-glutamyltransferase, lactate dehydrogenase, alanine aminotransferase and creatine kinase accord

Autor: Lothar, Siekmann, Roberto, Bonora, Carl A, Burtis, Ferruccio, Ceriotti, Pascale, Clerc-Renaud, Georges, Férard, Carlo A, Ferrero, Jean-Claude, Forest, Paul F H, Franck, F-Javier, Gella, Wieland, Hoelzel, Poul Jørgen, Jørgensen, Takashi, Kanno, Art, Kessner, Rainer, Klauke, Nina, Kristiansen, Jean-Marc, Lessinger, Thomas P J, Linsinger, Hideo, Misaki, Mathias M, Mueller, Mauro, Panteghini, Jean, Pauwels, Françoise, Schiele, Heinz G, Schimmel, Arlette, Vialle, Gerhard, Weidemann, Gerhard, Schumann

Publikováno v: Clinical chemistry and laboratory medicine. 40(7)

This paper is the seventh in a series dealing with reference procedures for the measurement of catalytic activity concentrations of enzymes at 37 degrees C and the certification of reference preparations. Other parts deal with: Part 1. The Concept of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::273317414be513865b2efb3aeb45e3be
https://pubmed.ncbi.nlm.nih.gov/12241024

IFCC Primary Reference Procedures for the Measurement of Catalytic Activity Concentrations of Enzymes at 37°C. Part 7. Certification of Four Reference Materials for the Determination of Enzymatic Activity of γ-Glutamyltransferase, Lactate Dehydrogenase, Alanine Aminotransferase and Creatine Kinase according to IFCC Reference Procedures at 37°C

Autor: Art Kessner, F-Javier Gella, Georges Férard, Paul F H Franck, Jean Pauwels, Mathias M. Mueller, Françoise Schiele, Rainer Klauke, Gerhard Schumann, Mauro Panteghini, Ferruccio Ceriotti, Gerhard Weidemann, Takashi Kanno, Carlo A. Ferrero, Jean-Claude Forest, Carl A Burtis, Lothar Siekmann, Arlette Vialle, N Kristiansen, Pascale Clerc-Renaud, R. Bonora, Heinz Schimmel, Hideo Misaki, Poul J. Jørgensen, Jean-Marc Lessinger, Wieland Hoelzel, Thomas P. J. Linsinger

Publikováno v: Clinical Chemistry and Laboratory Medicine. 40

This paper is the seventh in a series dealing with reference procedures for the measurement of catalytic activity concentrations of enzymes at 37 degrees C and the certification of reference preparations. Other parts deal with: Part 1. The Concept of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::58e28434f21e72e62d522d008f5462c0
https://doi.org/10.1515/cclm.2002.127