Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Juliette Bouchereau"'
Autor:
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through
Externí odkaz:
https://doaj.org/article/c41e870d385f45a7bab71242c1c3248d
Autor:
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of a
Externí odkaz:
https://doaj.org/article/a789869fae7343719234174d01ea84b9
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:
Caroline Tuchmann‐Durand, Eloise Thevenet, Florence Moulin, Fabrice Lesage, Juliette Bouchereau, Mehdi Oualha, Diala Khraiche, Anaïs Brassier, Camille Wicker, Stéphanie Gobin‐Limballe, Jean‐Baptiste Arnoux, Florence Lacaille, Clotilde Wicart, Bruno Coat, Joel Schlattler, Salvatore Cisternino, Sylvain Renolleau, Philippe‐Henri Secretan, Pascale De Lonlay
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 25-29 (2020)
Abstract Beta‐hydroxybutyrate (BHB) is a synthetic ketone body used as an adjuvant energy substrate in the treatment of patients with metabolic cardiomyopathy. A medication prescribing error led to the administration of the general anesthetic sodiu
Externí odkaz:
https://doaj.org/article/9a9575a1a70c442b8f11a787c64d3550
Autor:
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch, Manuel Schiff
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Abstract Background Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehydrogenase, such as th
Externí odkaz:
https://doaj.org/article/0e189f82e6e94029a268d6d62e3b4054
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
Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
Autor:
Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Glycogenosis type Ib (GSD1B) causes not only hypoglycemia but also infections and “Crohn's disease like” inflammatory bowel disease (IBD) that can significantly impair patient's quality of life. We retrospectively evaluated infectious and digesti
Externí odkaz:
https://doaj.org/article/202ca4803bfc436c96ae3b0652ae764e
Autor:
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit no
Externí odkaz:
https://doaj.org/article/3a075c12419b4a37b31397801c02bc73
Publikováno v:
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity. 27:3815-3820
Avoidant Restrictive Food Intake Disorder (ARFID) was recently characterized in the DSM-5 classification. Potential differential diagnoses remain poorly reported in the literature. Our purpose was to present a possible Munchausen syndrome by proxy wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc17fd0a80dae5d94ab1e576ba057c8
https://doi.org/10.1007/s40519-022-01520-5
https://doi.org/10.1007/s40519-022-01520-5
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