Results 81 to 90 of about 2,410 (179)

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

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Asociaciones de la expresión génica (transcriptoma)-fenotipo en pmm2-cdg [PDF]

, 2023
Los Defectos Congénitos de la Glicosilación (CDG) conforman una creciente familia de trastornos genéticos originados por fallos en los procesos celulares encargados de ensamblar, recortar y añadir glicanos a proteínas y lípidos.
Blázquez Martín, Ricardo
core  

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

Scientific Reports, 2023
Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown.
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano   +16 more
doaj   +1 more source

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 3, Page 660-671, March 2026.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Characterization of yeast models of PMM2 deficiency

, 2022
Characterization of yeast models of PMM2 deficiency. Short Term Mobility program 2022 @ Department of Biological Sciences, Lehigh University, PA, USA, prof GI Lang.
G Andreotti
core  

Heat Capacity Measurements and Thermodynamic Assessment of the Y2O3–Ta2O5 System

Journal of the American Ceramic Society, Volume 109, Issue 2, February 2026.
ABSTRACT Phase equilibria in the Y2O3–Ta2O5 system play an important role in the development of new materials for thermal barrier coating (TBC) applications, with higher thermal stability resulting in more efficient gas turbines with reduced exhaust gas emissions.
M. Löffler, D. A. de Abreu, A. Habermann, M. Lepple, O. Fabrichnaya   +4 more
wiley   +1 more source

Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2 [PDF]

, 2017
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic ...
Bussell, AM, Lewis, W, Flanagan, S, Pozo, J, van't Hoff, W, Lango-Allen, H, Jones, P, Brandli, A, Klootwijk, E, Mozere, M, Cheshire, C, Hamilton-Shield, J, Jefferies, C, Weedon, M, Wilson, P, Kleta, R, Koettgen, M, Argente, J, Hofherr, A, Hussain, K, Rahman, SA, Stanescu, H, Martos, JM, Norman, J, Perez-Cerda, C, Sebire, N, Kesselheim, A, Johnson, M, Turnpenny, P, Caswell, R, Viering, D, Issler, N, Dumitriu, S, Bockenhauer, D, Crowne, E, Guay-Woodford, L, Garcia-Martinez, E, Patel, V, Drynda, R, Tekman, M, Iancu, D, Hayes, W, Cabezas, OR, Ellard, S, Anton-Gamero, M, Parrish, A   +45 more
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