Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Samia Pichard"'
Autor:
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Acid sphingomyelinase deficiency (ASMD) or Niemann–Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a nee
Externí odkaz:
https://doaj.org/article/ab41a96d0cef4ab491a951b59def6bd6
Autor:
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances, Brigitte Chabrol, Didier Eyer, François Labarthe, Philippe Latour, Thierry Levade, Samia Pichard, Caroline Sevin, Marie T. Vanier, Bénédicte Héron
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onse
Externí odkaz:
https://doaj.org/article/d0db1ae2428d44aaa88b5dbf853effc1
Autor:
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successf
Externí odkaz:
https://doaj.org/article/8505fbb97e2847ea9c50de0114925eb6
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:
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Abstract Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. The objective of this study was to evaluate the contribution o
Externí odkaz:
https://doaj.org/article/54afcfc27f9e45b38ef162f66472e7b3
Autor:
Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100621- (2020)
Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including
Externí odkaz:
https://doaj.org/article/01d981b45edc49e59f73a5858b0b787c
Autor:
Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Nitrous oxide (N2O) is widely used as an anesthetic or an analgesic. N2O prolonged and recurrent administration is known to affect vitamin B12 metabolism with subsequent clinical consequences. We report herein the case of a 13-year-old girl with sick
Externí odkaz:
https://doaj.org/article/e6346a71e720453698e0e6b3b58211ac
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
Autor:
Yann Nguyen, Jérôme Stirnemann, Florent Lautredoux, Bérengère Cador, Monia Bengherbia, Karima Yousfi, Dalil Hamroun, Leonardo Astudillo, Thierry Billette de Villemeur, Anaïs Brassier, Fabrice Camou, Florence Dalbies, Dries Dobbelaere, Francis Gaches, Vanessa Leguy-Seguin, Agathe Masseau, Yves-Marie Pers, Samia Pichard, Christine Serratrice, Marc G. Berger, Bruno Fantin, Nadia Belmatoug, on behalf of the French Evaluation of Gaucher Disease Treatment Committee
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1247 (2020)
Gaucher disease (GD) is a rare lysosomal autosomal-recessive disorder due to deficiency of glucocerebrosidase; polyclonal gammopathy (PG) and/or monoclonal gammopathy (MG) can occur in this disease. We aimed to describe these immunoglobulin abnormali
Externí odkaz:
https://doaj.org/article/8e45bdc60d8144a48a961da20accd074
Autor:
Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 8-10 (2016)
Background: MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. Objectives: To report transient neonatal renal findings in MEG
Externí odkaz:
https://doaj.org/article/02278964e99742c586acb479b9591cc4