Results 51 to 60 of about 883 (149)

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

Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Maple syrup urine disease (MSUD) is a rare, autosomal recessive metabolic disorder resulting from a deficiency of the branched‐chain α‐ketoacid dehydrogenase complex. This leads to the accumulation of branched‐chain amino acids and their corresponding ketoacids, causing acute metabolic crises and progressive neurological damage if untreated ...
Reham Khalaf‐Nazzal, Huthaifa Haj‐Ahmad, Jana Zaid, Mohammed AbuShamleh, Imad Dweikat   +4 more
wiley   +1 more source

Case Report A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate [PDF]

, 2020
In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with
Mehtap Kagnici, Sema Kalkan Uçar, Melis Köse, Mahmut Çoker, Ebru Canda   +4 more
core  

Case report: maple syrup urine disease with a novel DBT gene mutation

BMC Pediatrics, 2019
Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng, Jinfu Jia, Heyang Guan, Qing Tian   +3 more
doaj   +1 more source

Impact of Longitudinal Plasma Leucine Levels on the Intellectual Outcome in Patients with Classic MSUD [PDF]

Pediatric Research, 2006
Maple syrup urine disease (MSUD) is an inherited deficiency of branched chain alpha-ketoacid dehydrogenase (BCKDH) activity impairing the degradation of the branched chain amino acids valine, leucine, and isoleucine. Classic MSUD may lead to severe neonatal encephalopathy including coma and impaired cognitive outcome in later life.
Björn, Hoffmann, Christoph, Helbling, Peter, Schadewaldt, Udo, Wendel   +3 more
openaire   +2 more sources

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Збори рослин, які охороняються на міжнародному рівні, в колекції Одеського університету (MSUD)

, 2017
Охорона рідкісних та зникаючих видів рослин у наш час стає нагальною, оскільки природні і штучні процеси, які проходять у біосфері, в багатьох випадках стають загрозою для їх існування.
Vasylieva, Tetiana V., Немерцалов, Владимир Владимирович, Nemertsalov, Volodymyr V., Бондаренко, Олена Юріївна, Васильєва, Тетяна Володимирівна, Коваленко, С. Г., Немерцалов, Володимир Володимирович, Bondarenko, Olena Yu., Васильева, Татьяна Владимировна, Бондаренко, Елена Юрьевна   +9 more
core   +1 more source

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease

Pediatrics and Neonatology, 2018
Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are
Bingjuan Han, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao   +4 more
doaj   +1 more source

Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD) [PDF]

, 2015
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by a blockage of branched-chain keto acid of BCAA (branched-chain keto acid dehydrogenase, BCKDH) leading to neurological damage induced by accumulation of leucine and metabolites.
Karen, Campo, Gabriela, Castro, Valerie, Hamilton, Juan Francisco, Cabello, Erna, Raimann, Carolina, Arias, Verónica, Cornejo   +6 more
openaire   +2 more sources

EBV‐Negative Burkitt Lymphoma Following Pediatric Liver Transplantation in a Child With Maple Syrup Urine Disease

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Maple Syrup Urine Disease (MSUD) is a genetic metabolic disorder requiring dietary protein restriction. Liver transplantation corrects the metabolic defect but carries a risk of post‐transplant lymphoproliferative disorder (PTLD), often associated with Epstein–Barr virus (EBV) infection.
Atsuki Naoe, Eri Ogawa, Makito Tanaka, Yoko Nakajima, Toshihiro Yasui, Shunsuke Watanabe, Tomonori Tsuchiya, Mikihiro Inoue, Nikhat Kaura   +8 more
wiley   +1 more source