Results 151 to 160 of about 147,891 (229)

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35‐Patient French Cohort

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...
Adélaïde Vissac, Eugénie Sarda, Charles‐Joris Roux, Manuel Schiff, Claire‐Marine Bérat, Juliette Bouchereau, Jean‐Baptiste Arnoux, Chloé de Puyraimond, Margaux Gaschignard, Tristan Mekdade, Ugo Cucinotta, Claire Mayer, Valérie Barbier, Jean François Benoist, Mehdi Oualha, Carmen Capito, Christophe Chardot, Myriam Dao, Aude Servais, Claire Francoz, Laurène Dehoux, Florence Lacaille, Isabelle Desguerre, Nathalie Boddaert, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Molecular Characterization of Atypical Hepatitis B Serological Profiles in HBsAg-Negative Women of Childbearing Age in Gabon. [PDF]

Curr Issues Mol Biol
Mikelet Boussoukou IP, Andeme Eyi AS, Ondh-Obame JA, Ondamba PJN, Magossou Mbadinga MJ, Makoyo Komba O, Omouessi ST, Djoba Siawaya JF, Ndeboko B.   +8 more
europepmc   +1 more source

Long‐Term Follow‐Up of Patients With Transaldolase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transaldolase (TALDO) deficiency has a well‐characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients.
M. Scaglione, A. Brassier, A. Wiedemann, I. Jankowska, J. Pawłowska, T. Lamireau, L. Bridoux‐Henno, C. Douillard, T. Casswall, U. Cucinotta, M. Gaschignard, P. Socha, F. Feillet, B. Fischler, D. Samara‐Boustani, M. C. Schiaffino, M. Schiff, P. De Lonlay, F. Lacaille   +18 more
wiley   +1 more source

[Extradural spinal tumor in a child at Constantine University Hospital (Algeria): what is your diagnosis?] [PDF]

Med Trop Sante Int
Nabil M, Allouache B.
europepmc   +1 more source

Maternal Child‐Directed Speech Toward Children With Infantile Spasm or West Syndrome

International Journal of Language &Communication Disorders, Volume 61, Issue 2, March/April 2026.
ABSTRACT Background Maternal child‐directed speech (MCDS) plays a critical role in early language and communicative development, yet little is known about how it adapts to neurodevelopmental conditions such as Infantile Spasms/West Syndrome (WS), particularly when co‐occurring with intellectual disability (WID) or autism spectrum disorder (WASD).
Le Normand M.T., Christelle Gosme, Marluce Leitgel‐Gille, Roberta Simas, Xavier Jeudon, Bernard Golse, Lisa Ouss   +6 more
wiley   +1 more source

Hypnosis in Awake Surgery for Brain Tumors in Children

Brain and Spine
Mme Mathilde Marchal, Dr. Pierre-Aurélien Beuriat, Dr. Matthieu Vinchon, Dr. Alexandru Szathmari, Mme Xenia Gordon, Dr. Camilla de Laurentis, Pr Federico Di Rocco, Dr. Anne-Sarah Szostek   +7 more
doaj   +1 more source

[Factors associated with mothers' first therapeutic recourse for children aged 0-5 years in Benin]. [PDF]

Pan Afr Med J
Atiogbe KG, Gaffan N, Aviansou AS, Sopoh GE, Ouendo EM.   +4 more
europepmc   +1 more source

«Différant des Autres», Espacements et Temporalités Spectrales

Anthropology of Consciousness, Volume 37, Issue 1, Spring 2026.
ABSTRACT That night that he agreed to our suggestion that we accompany him outside, for the whole night or until the overflow has passed, M seemed to be in direct contact with all the layers of astronomy, inhabiting all temporalities simultaneously. Outside, lying/sitting on the picnic table, in the pitch‐black darkness of the night in the woods, under
Amélie‐Anne Mailhot
wiley   +1 more source

Effect of a Professional Information Campaign on the Use of Sevoflurane in Pediatric Anesthesia. [PDF]

Paediatr Anaesth
Bouvet L, Boutarin A, De Queiroz M, Zieleskiewicz L.   +3 more
europepmc   +1 more source