Results 71 to 80 of about 883 (149)

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

JIMD Reports, 2020
Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours, referral ...
Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch   +17 more
doaj   +1 more source

N‐lactoyl amino acids are potential biomarkers for insulin resistance and diabetic complications

Diabetes, Obesity and Metabolism, Volume 27, Issue 10, Page 5793-5804, October 2025.
Abstract Aims N‐lactoyl amino acids (Lac‐AA) are emerging as crucial players in metabolic research, with potential implications for disease mechanisms and therapeutic interventions. This study exploress the role of Lac‐AA in insulin resistance, type 2 diabetes (T2D), and its complications.
Khaled Naja, Asma A. Elashi, Najeha Anwardeen, Aleem Razzaq, Laila Hedaya, Shamma Almuraikhy, Ilhame Diboun, Karsten Suhre, Omar AlBagha, Mohamed A. Elrayess   +9 more
wiley   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

A new frame shift pathogenic variant (c.773dupT) in the BCKDHB gene caused MSUD in an infant from north of Iran

Case Reports in Perinatal Medicine
Inborn errors of metabolism (IEMs) result from pathogenic variants in genes involved in essential metabolic pathways. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) has facilitated the early detection and diagnosis of IEMs, enabling ...
Jalali Hossein, Zamanfar Daniel, Rahimi Maryam, Mokhtari Hossein, Ghorbani Fatemeh, Mahdavi Mohammad Reza   +5 more
doaj   +1 more source

Maple Syrup Urine Disease: assessing the correlation between MRI findings and clinical outcomes

Bulletin of the National Research Centre
Introduction Maple Syrup Urine Disease (MSUD) is a rare metabolic disorder characterized by symptoms that typically emerge within the first week of life, such as poor feeding and lethargy.
Farrokh Seilanian Toosi, Reza Nejad Shahrokh Abadi, Narges Hashemi, Gholamreza Mohammadi   +3 more
doaj   +1 more source

Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice

Orphanet Journal of Rare Diseases
Background Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of metabolism caused by a deficiency of branched-chain ketoacid dehydrogenase, the enzyme involved in the second step of branched-chain amino acid catabolism. Of the three
Aude Servais, Marie Therese Abi-Wardé, Jean-Baptiste Arnoux, Alberto Burlina, Francois Feillet, Vincenzo Giordano, Nicola Longo, Sufin Yap   +7 more
doaj   +1 more source

Колекція відомого ботаніка Мішеля Гандоже у гербарії MSUD (до святкування року Франції в Україні)

, 2019
The thesis described the part of the historical collection of ONU (MSUD) herbarium. Specimens, gathered in the South of Franсе in 1895-1898 by the famous French botanists Michel Gandoger, preserved in the herbarium of E.E.
Vasylieva, Tetiana V., Коваленко, Світлана Георгіївна, Немерцалов, Владимир Владимирович, Nemertsalov, Volodymyr V., Васильєва, Тетяна Володимирівна, Бондаренко, Олена Юріївна, Kovalenko, Svitlana H., Немерцалов, Володимир Володимирович, Bondarenko, Olena Yu., Васильева, Татьяна Владимировна, Бондаренко, Елена Юрьевна   +10 more
core   +1 more source

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease

JIMD Reports
Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by the accumulation of branched‐chain amino acids (leucine, isoleucine, and valine) caused by a defect in the branched‐chain alpha‐keto acid dehydrogenase complex.
Shao Ching Tu, Marium Khan, Katie Wolfe, Sakil S. Kulkarni, Elizabeth Toolan, Dorothy K. Grange   +5 more
doaj   +1 more source

Successful pregnancy in maple syrup urine disease: a case report and review of the literature

Nutrition Journal, 2018
Background Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy.
Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter   +5 more
doaj   +1 more source

HERBARIUM ONU (MSUD). APPEARANCE OF THE PLANTS INVASIVE SPECIES IN ODESA REGION AND IN ODESA CITY

, 2010
Вiсник Одеського нацiонального унiверситету = Вестник Одесского национального университета/ ОНУ імені І. І. Мечникова. - Одеса : Астропринт, 2010. - Том 14, Вип. 14: Сер. "Біологія". – укр.
Коваленко, Світлана Георгіївна, Vasylieva, Tetiana V., Коваленко, Светлана Георгиевна, Бондаренко, Олена Юріївна, Васильєва, Тетяна Володимирівна, Васильева, Татьяна Владимировна, Bondarenko, Olena Yu., Бондаренко, Елена Юрьевна, Kovalenko, Svitlana Georgiivna   +8 more
core   +1 more source