Výsledky vyhledávání - "Cécile, Talbotec"

Akademický článek

Recurrent 'outsider' intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Autor: Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Benoît Funalot, Isabelle Desguerre

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10 families have

Externí odkaz: https://doaj.org/article/996c5f2b1d304ade96264a8eba265cad

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Akademický článek

Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A

Autor: Celine Banal, Eddy Quelennec, Cécile Talbotec, Anis Khiat, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Nathalie Lefort, Corinne Lebreton

Publikováno v: Stem Cell Research, Vol 68, Iss , Pp 103057- (2023)

Mutations in UNC45A, a co-chaperone for myosins, were recently found causative of a syndrome combining cholestasis, diarrhea, loss of hearing and bone fragility. We generated induced pluripotent stem cells (iPSCs) from a patient with a homozygous mis

Externí odkaz: https://doaj.org/article/c7f7b94f9a194085851c1162f5a0b0e6

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Akademický článek

Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

Aims/HypothesisCaused by biallelic mutations of the gene encoding the transcription factor RFX6, the rare Mitchell–Riley syndrome (MRS) comprises neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis or hypoplasia, duodenal atresia, and se

Externí odkaz: https://doaj.org/article/0415565a92324913891728b1437cc6c5

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Akademický článek

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

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

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Outcome of Total Colonic Aganglionosis Involving the Small Bowel Depends on Bowel Length, Liver Disease, and Enterocolitis

Autor: Elise, Payen, Cécile, Talbotec, Christophe, Chardot, Carmen, Capito, Naziha, Khen-Dunlop, Sabine, Sarnacki, Florence, Lacaille, Cecile, Lambe, Olivier, Goulet

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 74:582-587

Total colonic aganglionosis involving the small bowel is a rare form of Hirschsprung disease. We aim to analyse the long-term outcomes, digestive autonomy, and complications, to suggest recommendations for prevention and treatment.All patients born b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab9048727e6e23c1e3cd554a3b49e24
https://doi.org/10.1097/mpg.0000000000003415

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Adalimumab therapy in pediatric Crohn's Disease: a two-year follow-up comparing 'top-down' and 'step-up' strategies

Autor: Elise, Payen, Antoine, Neuraz, Letizia, Zenzeri, Cécile, Talbotec, Elie, Abi Nader, Lucienne, Chatenoud, Stephanie, Chhun, Olivier, Goulet, Frank M, Ruemmele, Bénédicte, Pigneur

Publikováno v: Journal of pediatric gastroenterology and nutrition.

European Crohn's Colitis Organization (ECCO) and the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines recommend the early use of anti-TNF biologicals in pediatric Crohn disease (CD) patients with positive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e40f932ed2f69d0d58d8cb22110158af
https://pubmed.ncbi.nlm.nih.gov/36305799

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Beyond 10 years, with or without an intestinal graft: Present and future?

Autor: Olivier Corcos, Christophe Chardot, Sophie Courbage, Louise Galmiche, Florence Lacaille, Cécile Lambe, Olivier Goulet, Marion Rabant, Danielle Canioni, Francisca Joly, Cécile Talbotec

Publikováno v: Am J Transplant

Long-term outcomes in children undergoing intestinal transplantation remain unclear. Seventy-one children underwent intestinal transplantation in our center from 1989 to 2007. We report on 10-year posttransplant outcomes with (group 1, n = 26) and wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a2f75345ed6ff5eee0e3ac25718e97
https://doi.org/10.1111/ajt.15899

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