Results 31 to 40 of about 368 (102)

A Rare Case of Conjunctival and Scleral Necrosis Following Anterior Sub‐Tenon Triamcinolone Acetonide Injection in a Pediatric Patient

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT The sub‐Tenon route for injecting triamcinolone acetonide is one of the widely practiced surgical techniques for postoperative inflammation control, but complicated conjunctival and scleral necrosis are rare occurrences. A 3‐year‐old boy underwent bilateral cataract surgery and an anterior sub‐tendon injection of triamcinolone (AST) (20 mg ...
Muhammad Mateen Amir, Minahal Mateen, Bilal Aslam, Shafiq Ur Rahman, Fazeela Bibi, Khalil El Abdi, Said Hamid Sadat   +6 more
wiley   +1 more source

Galactosemias:Lessons from the GalNet registry, state of the art fertility insights, and exploring new treatments [PDF]

Galactosemias is a group of inherited disorders characterised by an aberrant cellular galactose metabolism. Depending on the affected step in the galactose metabolism pathway, patients show a broad phenotypic spectrum and experience a high disease burden.
Derks, Britt
core   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

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

DiseaseOntology/HumanDiseaseOntology: DO May 2024 release

<p>In this release of the Human Disease Ontology, all cross-references to OMIM in all files have had their prefixes changed from 'OMIM' to 'MIM' to align with OMIM. <em>Prefixes will stably remain 'MIM' going forward.
Chris Mungall, andrawaag, Sue Bello, Melody Swen, Claudia Sánchez-Beato Johnson, J. Allen Baron, lschriml, Anu, Becky Jackson, jbmunro, James A. Overton, Elvira   +11 more
core   +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

Surgical Management of Congenital Lung Malformations in Children—A Single‐Center Analysis of 25 Years of Experience

The Clinical Respiratory Journal, Volume 20, Issue 2, February 2026.
Early diagnosis and intervention are critical for improving prognosis in children with congenital lung malformations (CLM). Fetal diagnosis of CLM generally leads to favorable outcomes; however, there is limited evidence on the effectiveness of fetal therapy in improving outcomes for these anomalies.
Patrycja Sosnowska‐Sienkiewicz, Alicja Kamińska, Przemysław Mańkowski, Irena Wojsyk‐Banaszak, Danuta Januszkiewicz‐Lewandowska   +4 more
wiley   +1 more source

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of hepatomegaly, hypoglycemia, and elevated liver enzymes in infants is crucial for diagnosing glycogen storage disease. Liver biopsy with PAS–diastase staining provides definitive confirmation. Prompt metabolic management and regular follow‐up are essential to prevent progression of fibrosis and long‐term hepatic ...
Rajat Kumar Shah, Sajjad Ahmed Khan, Dikshya Devkota, Manjisha Aryal, Nishan Subedi, Basna Aryal, Binita Gurubacharya, Shamin Parajuli, Ashwini Gupta, Surya Bahadur Parajuli, Huma Kausar   +10 more
wiley   +1 more source

Galactosemia tipo III

, 2013
Un gran número de enfermedades metabólicas pertenecen al grupo de enfermedades clasificadas como enfermedades raras. Las mutaciones en cada una de las tres enzimas encargadas del correcto metabolismo de la galactosa producen un tipo de enfermedad rara ...
Brokate-Llanos, Ana M., Muñoz, Manuel J.   +1 more
core  

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin‐511 in Early Neurodevelopment

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Childhood apraxia of speech (CAS) is characterized by motor discoordination in the speech domain and also in fine and gross motor systems, implicating the early developing cerebellum. Comorbidity with autism spectrum disorder (ASD) and other neurodevelopmental conditions has been observed. The genetic etiology is highly heterogeneous.
Caitlin Raaz, Laurel Bruce, Madhavi Ganapathiraju, Judith Klein-Seetharaman, Li Liu, Valentin Dinu, Marjan Chapi, Eunhyo Kim, Yookyung Kim, Tiffanie White, Beate Peter, Balraj Mittal   +11 more
wiley   +1 more source