Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Valérie Barbier"'
Autor:
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100933- (2022)
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months
Externí odkaz:
https://doaj.org/article/06ee16d9c5f84e49b379a7616bb8c55f
Autor:
Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay, Laurence Le Moyec
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated at the boundary betw
Externí odkaz:
https://doaj.org/article/e9c6d4b437ca45deb5651b37c9bcf377
Autor:
Claire-Marine Bérat, Célina Roda, Anais Brassier, Juliette Bouchereau, Camille Wicker, Aude Servais, Sandrine Dubois, Murielle Assoun, Claire Belloche, Valérie Barbier, Virginie Leboeuf, François M. Petit, Pauline Gaignard, Elise Lebigot, Pierre-Jean Bérat, Clément Pontoizeau, Guy Touati, Cécile Talbotec, Florence Campeotto, Chris Ottolenghi, Jean-Baptiste Arnoux, Pascale de Lonlay pascale
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100655- (2021)
Context: A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs). Objective: To describe the use of ETF in a large cohort of patients with IMDs. Design: A retrospect
Externí odkaz:
https://doaj.org/article/5305a830d5894d958f53a020b67a5820
Autor:
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valérie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothée de Saint-Denis, Stéphanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stéphane Blanche, Jean-Hugues Dalle, Bénédicte Neven, Pascale de Lonlay, Anaïs Brassier
Publikováno v:
Bone Marrow Transplantation. 58:295-302
Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171a7f3966695fbbc3810f492488ee57
https://doi.org/10.1038/s41409-022-01886-1
https://doi.org/10.1038/s41409-022-01886-1
Autor:
Mehdi Oualha, Valérie Barbier, Bernadette Chadefaux-Vekemans, Aude Servais, Célina Roda, Guy Touati, Anaïs Brassier, Laurent Dupic, Marie-Thérèse Abi-Warde, Coraline Grisel, Clément Pontoizeau, Anna Kaminska, Vassili Valayannopoulos, Monika Eisermann, Carole Hennequin, Patricia Vignolo-Diard, Chris Ottolenghi, Pascale de Lonlay, Alice Kuster, Florence Habarou, Nathalie Boddaert, Fabrice Lesage, Jean-Baptiste Arnoux
Publikováno v:
Molecular Genetics and Metabolism. 130:110-117
Purpose We aimed to identify prognostic factors for survival and long-term intellectual and developmental outcome in neonatal patients with early-onset urea cycle disorders (UCD) experiencing hyperammonaemic coma. Methods We retrospectively analysed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cde5422863052cf235607b31fb5808e
https://doi.org/10.1016/j.ymgme.2020.03.003
https://doi.org/10.1016/j.ymgme.2020.03.003
Autor:
Célina Roda, Pascale de Lonlay pascale, Clément Pontoizeau, Pierre-Jean Bérat, Pauline Gaignard, Guy Touati, Elise Lebigot, Jean-Baptiste Arnoux, M. Assoun, Valérie Barbier, Sandrine Dubois, Camille Wicker, Cécile Talbotec, Claire Belloche, Virginie Leboeuf, Anaïs Brassier, Aude Servais, Juliette Bouchereau, Chris Ottolenghi, Francois Michael Petit, F. Campeotto, Claire-Marine Bérat
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100655-(2021)
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100655-(2021)
Context A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs). Objective To describe the use of ETF in a large cohort of patients with IMDs. Design A retrospective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc665b996ce23377d350d48ae146c71
https://pubmed.ncbi.nlm.nih.gov/33473351
https://pubmed.ncbi.nlm.nih.gov/33473351
Autor:
Kavita Bisht, Crystal McGirr, Seo-Youn Lee, Hsu-Wen Tseng, Whitney Fleming, Kylie Alexander, Taichi Matsumoto, Valérie Barbier, Natalie Sims, Gerhard Müller-Newen, Ingrid Winkler, Halvard Bönig, Jean-Pierre Levesque
Publikováno v:
Experimental Hematology. 100:S44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::293741b35dc43d032f5207941168e588
https://doi.org/10.1016/j.exphem.2021.12.225
https://doi.org/10.1016/j.exphem.2021.12.225
Autor:
Pascale de Lonlay, Jean-Baptiste Arnoux, Pierre Canouï, Vassili Valayannopoulos, Anne-Sophie Guemann, Valérie Barbier, Florence Lacaille, Anaïs Brassier, Stéphanie Gobin, Clément Pontoizeau, Florence Habarou, Jean-Paul Bonnefont, Chris Ottolenghi, Caroline Dejean de la Bâtie, Lisa Ouss, Célina Roda
Publikováno v:
Journal of Inherited Metabolic Disease. 41:623-629
Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented. We conducted a pedopsychiat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca578b90746a7d0a3b26b6810eed82fd
https://doi.org/10.1007/s10545-017-0070-2
https://doi.org/10.1007/s10545-017-0070-2
Autor:
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Publikováno v:
Journal of Inherited Metabolic Disease. 40:377-383
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4611a64a916b61bb92a29878c33f6667
https://doi.org/10.1007/s10545-017-0033-7
https://doi.org/10.1007/s10545-017-0033-7
