Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Jean‐Baptiste Arnoux"'
Autor:
Daniela Telehuz, Oana Plesa, Florence Bouilloud, Helene Wucher, Pascale De Lonlay, Claire-Marine Bérat, Cécile Saint-Martin, Olivier Dupuy, Jean-Baptiste Arnoux
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was performed at the age of three weeks. Later, histological analysis of her pancreas
Externí odkaz:
https://doaj.org/article/1c7e2938233d4116b61a925212aeb6de
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:
Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 361-370 (2022)
Abstract Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that a
Externí odkaz:
https://doaj.org/article/bd9d7265c2564712ae3e74349d93a2bd
Autor:
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain. Here the authors develop an AAV8-directed gene therapy providing sustainable diseas
Externí odkaz:
https://doaj.org/article/bccd1d42d05b472e924ee795b21fc179
Autor:
Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration routes. In some patien
Externí odkaz:
https://doaj.org/article/8f59208a49e64da6bb37d62f57cb423c
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:
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed.
Externí odkaz:
https://doaj.org/article/0338a7325f634e74a9ff7f1f063adba0
Autor:
Birgitta Olsson, Lakshminarayan Ranganath, Jean‐Baptiste Arnoux, Richard Imrich, Anna Milan, Mattias Rudebeck
Publikováno v:
JIMD Reports, Vol 63, Iss 1, Pp 41-49 (2022)
Abstract In an open‐label, controlled study of nitisinone in alkaptonuria (SONIA 2), patients were advised to lower dietary protein intake to reduce serum tyrosine (s‐Tyr) levels and the risk of keratopathy. A body weight increase was observed in
Externí odkaz:
https://doaj.org/article/be3b952aa5464c34a1393c236fa2f965
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:
Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath
Publikováno v:
RMD Open, Vol 8, Iss 2 (2022)
Objectives Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.Methods Patients with AKU aged 25 years or
Externí odkaz:
https://doaj.org/article/7ad17879aed8418c859a209f23af4c38