Results 71 to 80 of about 12,645 (222)
Monitoring Methylmalonic Aciduria by NMR Urinomics
Molecules, 2020 The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to ...Alina Nicolescu, Daniela Blanita, Chiril Boiciuc, Victoria Hlistun, Mihaela Cristea, Dorina Rotaru, Ludmila Pinzari, Ana Oglinda, Adela Stamati, Isabela Tarcomnicu, Andreea Tutulan-Cunita, Danae Stambouli, Sergiu Gladun, Ninel Revenco, Natalia Uşurelu, Calin Deleanu +15 moredoaj +1 more sourcePerinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect.
Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ +6 morecore +1 more sourceRNA‐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 morewiley +1 more sourceExpert‐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 morewiley +1 more sourcePolimorfismo de deleção de 19 pares de bases do gene dihidrofolato redutase (DHFR): risco materno para síndrome de Down e metabolismo do folato [PDF]
, 2010 CONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase ...BISELLI, Joice Matos, CARVALHO, Valdemir Melechco, EBERLIN, Marcos Nogueira, GOLONI-BERTOLLO, Eny Maria, HADDAD, Renato, MENDES, Cristiani Cortez, PAVARINO-BERTELLI, Érika Cristina, RICCIO, Maria Francesca, VANNUCCHI, Hélio, ZAMPIERI, Bruna Lancia +9 morecore +1 more sourceOrganoids 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 morewiley +1 more sourceAcute 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 morewiley +1 more sourceVitamin status and cognitive function in a long-term care population [PDF]
, 2005 Background Ageing can be associated with poor dietary intake, reduced nutrient absorption, and less efficient utilization of nutrients. Loss of memory and related cognitive function are also common among older persons.Lina Paulionis, Sheri-Lynn Kane, Kelly A Meckling, JS Goodwin, RM Ortega, A La Rue, CE Greenwood, M Raskind, IR Bell, JA Driskell, KM Riggs, R Clarke, A McCaddon, H Kasper, HW Baik, H Van den Berg, CS Rose, SD Krasinski, GS Bradford, RM Russell, LC Pennypacker, J Selhub, R Diaz-Arrastia, W Molloy, E Joosten, RM Ortega, EL Jacobson, E Camilo, E Joosten, EL Jacobson, CS Fu, JA Knebl, E Jacobson, G Holleland, Y Yao, B Termanini, SP Clissold, S Lanzon-Miller, H Koop, RW Force, R Carmel, J Lindenbaum, J Selhub, KM Koehler, JW Miller, JB Ubbink, O Nygard, AK Kant, K Rasmussen, SM Gartler, FE Matthews, HH Keller, DM Clarke, MD Litchford +53 morecore +2 more sourcesMetabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.Sharmila Kiss, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee +10 morewiley +1 more source
