Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Michèle Brivet"'
Autor:
Ivan Shelihan, Elsa Rossignol, Jean‐Claude Décarie, Jean‐Paul Bonnefont, Michèle Brivet, Catherine Brunel‐Guitton, Grant A. Mitchell
Publikováno v:
JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)
Abstract Objective To report an adolescent with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically a
Externí odkaz:
https://doaj.org/article/13ede0852be44847b123dd08457593d7
Autor:
Elsa Rossignol, Grant A. Mitchell, Jean-Claude Décarie, Catherine Brunel-Guitton, Michèle Brivet, Ivan Shelihan, Jean-Paul Bonnefont
Publikováno v:
JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)
JIMD Reports, Vol 63, Iss 1, Pp 3-10 (2022)
Objective To report an adolescent with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically at age 5 m
Publikováno v:
Inborn Metabolic Diseases ISBN: 9783662631225
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4664f57244f1aa7c21c1e11eae53f359
https://doi.org/10.1007/978-3-662-63123-2_11
https://doi.org/10.1007/978-3-662-63123-2_11
Publikováno v:
Inborn Metabolic Diseases ISBN: 9783662497692
Inborn Metabolic Diseases ISBN: 9783642157196
Inborn Metabolic Diseases ISBN: 9783540287834
Inborn Metabolic Diseases ISBN: 9783642157196
Inborn Metabolic Diseases ISBN: 9783540287834
Owing to the role of pyruvate and the tricarboxylic acid (TCA) cycle in energy metabolism, as well as in gluconeogenesis, lipogenesis and amino acid synthesis, defects in pyruvate metabolism and in the TCA cycle almost invariably affect the central n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17528b92a59f9554501cfe289aeedac6
https://doi.org/10.1007/978-3-662-49771-5_11
https://doi.org/10.1007/978-3-662-49771-5_11
Autor:
Matthieu Lacroix, Laurence Pessemesse, Geneviève Rodier, Maud Heuillet, Hélène Delpech, Audrey Boutron, Charlene Berthet, François Casas, Florence Bernex, Berfin Seyran, Olivier Kirsh, Michèle Brivet, Jean-Charles Portais, Laurent Le Cam, Claude Sardet, Thibault Houlès, Laurie Gayte, Floriant Bellvert
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2016, 113 (39), pp.10998-11003. ⟨10.1073/pnas.1602754113⟩
Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (39), pp.10998-11003. ⟨10.1073/pnas.1602754113⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2016, 113 (39), pp.10998-11003. ⟨10.1073/pnas.1602754113⟩
Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (39), pp.10998-11003. ⟨10.1073/pnas.1602754113⟩
The mitochondrial pyruvate dehydrogenase (PDH) complex (PDC) acts as a central metabolic node that mediates pyruvate oxidation and fuels the tricarboxylic acid cycle to meet energy demand. Here, we reveal another level of regulation of the pyruvate o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::630318d91d52479a752fe4e2403150e9
https://hal.archives-ouvertes.fr/hal-01837650
https://hal.archives-ouvertes.fr/hal-01837650
Autor:
Christine Vianey-Saban, Hendy Abdoul, Pierre Broué, Philippe Sachs, Hélène Ogier de Baulny, Julien Baruteau, Michèle Brivet
Publikováno v:
Journal of Inherited Metabolic Disease. 36:795-803
Mitochondrial fatty acid β-oxidation defects (FAODs) are a group of severe inherited metabolic diseases, most of which can be treated with favorable prognosis following diagnosis. A description of the broad range of phenotypes resulting from these d
Publikováno v:
EMC - Pediatría. 47:1-9
La galactosa es uno de los componentes del disacarido lactosa, que es el carbohidrato mas abundante en la leche de los mamiferos. Existen tres enfermedades hereditarias del metabolismo de la galactosa. El deficit de galactocinasa provoca un cuadro de
Autor:
Manuèle Miné, P. de Lonlay, C. Marsac, Christine Barnerias, Michèle Brivet, J.-M. Saudubray, A. Boutron, A. Imbard, C. Vequaud, H. Ogier de Baulny, Mokhtar Zater
Publikováno v:
Molecular Genetics and Metabolism. 104:507-516
Background Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit ( PDHA1 ) while a few cases result from
Autor:
T. Billette de Villemeur, Odile Rigal, François Feillet, Arnold Munnich, Delphine Lamireau, Nathalie Guffon, Michèle Brivet, P. de Lonlay, Aline Cano, Daniel Rabier, J. M. Saudubray, H. Ogier de Baulny, François Labarthe, Cécile Acquaviva, Dries Dobbelaere, A. Boutron, Christine Vianey-Saban
Publikováno v:
Molecular Genetics and Metabolism. 103:341-348
Background Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic DNA level and have not been always elucidated. Aim To identify mutations in a Fre
Autor:
Cécile Marsac, Gérard Ponsot, Guy Touati, Pascale de Lonlay, Olivier Dulac, Michèle Brivet, Isabelle Desguerre, Jean-Marie Saudubray, Christine Barnerias
Publikováno v:
Developmental Medicine & Child Neurology. 52:e1-e9
Aim To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency. Method Twenty-two participants with enzymologically and genetically confirmed PDHc deficiency were analysed for clinical and imaging features over a 15-ye