Results 61 to 70 of about 870 (139)

Report of the Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) on Hereditary Fructose Intolerance (HFI), or aldolase B deficiency, and fructose malabsorption (intestinal fructose intolerance)

Food Risk Assess Europe, Volume 4, Issue 2, April 2026.
Abstract Hereditary Fructose Intolerance (HFI), also known as aldolase B deficiency, is an inherited metabolic disorder caused by the deficiency of that enzyme, which participates in the fructose metabolism in the liver, kidneys and small intestine. Aldolase B deficiency brings about the accumulation of fructose‐1‐phosphate in these organs, which can ...
Araceli Díaz Perales, Irene Bretón Lesmes, Ángel Gil Izquierdo, Gema Nieto Martínez, Silvia Pichardo Sánchez, María de Cortes Sánchez Mata, María Ángeles Carlos Chillerón   +6 more
wiley   +1 more source

Sweet and sour: an update on classic galactosemia [PDF]

Journal of Inherited Metabolic Disease, 2017
AbstractClassic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose‐1‐phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life‐threatening disease, whose clinical picture can be resolved by a galactose‐restricted diet.
Coelho, Ana I., Rubio‐Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel   +3 more
openaire   +2 more sources

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

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

Correction to: Classical galactosemia

Orphanet Journal of Rare Diseases, 2020
1. Author M. Estela Rubio Gozalbo’s first and last names were captured incorrectly. The author’s first names are M. Estela, while last names are Rubio Gozalbo. The correct author’s name has been updated in the original article [1] and shown in the author list of this Correction. 2. In Table 2 ‘Digit span’ and ‘GIT-2’ are tests and should be preceded by
Welsink-Karssies, Mendy M., Oostrom, Kim J., Hermans, Merel E., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Oussoren, Esmee, Rubio Gozalbo, M. Estela, de Vries, Maaike, Geurtsen, Gert J., Bosch, Annet M.   +10 more
openaire   +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

Fertility preservation in female classic galactosemia patients [PDF]

Orphanet Journal of Rare Diseases, 2013
Abstract Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility.
van Erven, Britt, Gubbels, Cynthia S, van Golde, Ron J, Dunselman, Gerard A, Derhaag, Josien G, de Wert, Guido, Geraedts, Joep P, Bosch, Annet M, Treacy, Eileen P, Rubio-Gozalbo, M Estela, Welt, Corrine, Berry, Gerard   +11 more
openaire   +8 more sources

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

Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Classic galactosemia is a rare metabolic disorder resulting from galactose‐1‐phosphate uridylyltransferase deficiency, which disrupts normal galactose metabolism, leading to toxic accumulation of galactose‐1‐phosphate and galactitol. Despite early dietary intervention, patients remain at risk for long‐term neurological impairments, including ...
Eva Niess, Fabian Niess, Wolfgang Bogner, Alena Svatkova, Marion Herle, Lisa Laußner, Lukas Hingerl, Bernhard Strasser, Maximilian Pichler, Vassiliki Konstantopoulou, Miriam Hufgard‐Leitner, Dominic Buchinger, Ivan Milenkovic, Alexandra Kautzky‐Willer, Thomas Stulnig, Thomas Scherer   +15 more
wiley   +1 more source

Molecular diagnostics of primary immunodeficiencies in Sverdlovsk region

Медицинская иммунология, 2021
The article presents the results of the work performed by the laboratory of molecular diagnostics at the Medical Center “Health Care of Mother and Child” for the diagnosis of primary immunodeficiency in Sverdlovsk region over 5 years.
S. S. Deryabina, O. V. Lagutina, I. A. Tuzankina, E. V. Vlasova, M. A. Bolkov   +4 more
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