Results 81 to 90 of about 883 (149)

Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype

JIMD Reports
Maple syrup urine disease (MSUD) is a disorder of branched‐chain amino acid metabolism caused by a defect in the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex (OMIM #248600).
Emily Singh, Young‐In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer   +6 more
doaj   +1 more source

MSUD-YOLO: A Novel Multiscale Small Object Detection Model for UAV Aerial Images

Due to the objects in UAV aerial images often presenting characteristics of multiple scales, small objects, complex backgrounds, etc., the performance of object detection using current models is not satisfactory.
Wenwen Zhang, Chenxiao Li, Yao Ding, Xiaofeng Zhao, Hui Zhang, Junyi Ma, Zhili Zhang   +6 more
core   +1 more source

Збори дослідників угорської флори ХІХ ст. у гербарії Е.Е. Ліндеманна (MSUD)

, 2020
Life of outstanding Hungarian investigators of flora was described and geography their scientific collections was analysed. The main attention was paid to herbarium collections, gathered or identified by A. Tauscher, V. Borbas, V. Janka in XIX century,
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

In silico analysis of single nucleotide polymorphisms in BCKDHA and BCKDHB genes associated with maple syrup urine disease (MSUD) [PDF]

, 2023
Akçaağaç şurubu idrar hastalığı (Maple Syrup Urinary Disease; MSUD), dallı zincirli α-ketoasit dehidrogenaz enzim kompleksinin (BCKD) azalmış aktivitesine bağlı gelişen, nadir görülen otozomal resesif geçiş gösteren metabolik bir hastalıktır.
ÇÖRDÜKÇÜ, Keziban
core  

Suppressors of Meiotic Silencing by Unpaired DNA

Non-Coding RNA, 2019
Meiotic silencing by unpaired DNA (MSUD) is a gene silencing process that occurs within meiotic cells of Neurospora crassa and other fungi. We have previously developed a high-throughput screen to identify suppressors of this silencing pathway.
Hua Xiao, Thomas M. Hammond, Patrick K. T. Shiu   +2 more
doaj   +1 more source

Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease

Genetics in Medicine Open
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have a genetic disorder, which can ...
Ma-Am Joy R. Tumulak, Carmencita D. Padilla, Jose Carlo E. Ongchangco, Mercy Y. Laurino, John Benedict B. Lagarde, Ellen S. Regalado, Augusto V. Legaspi, Elizabeth R. Ventura   +7 more
doaj   +1 more source

MSUD presenting with phenylalanine elevation on neonatal screening

Turkish Journal of Pediatric Disease
Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by an increase in branched-chain amino acids (BCAAs), resulting from a deficiency in the branched-chain α-ketoacid dehydrogenase (BCKD) enzyme.  A 22-day-old asymptomatic male infant was referred to our center following the detection of elevated phenylalanine (PHE) levels ...
openaire   +1 more source

Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease

Case Reports in Dermatological Medicine, 2017
Introduction. Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency ...
Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho   +4 more
doaj   +1 more source

Maple syrup urine disease in Brazil: a panorama of the last two decades

Jornal de Pediatria, 2015
OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza   +8 more
doaj   +1 more source

Історична колекція Й. К. Пачоського Гербарію Одеського національного університету імені І. І. Мечникова (MSUD). Рецензія: Коваленко С. Г., Бондаренко О. Ю., Васильєва Т. В. Скарби Гербарію ОНУ (MSUD). Гербарна колекція Й.К. Пачоського

, 2013
Рецензія на книгу: Коваленко С.Г., Бондаренко О.Ю., Васильєва Т.В. Скарби гербарію ОНУ (MSUD). Гербарна колекція Й.К. Пачоського. — Одеса: Освіта України, 2013.
Шиян, Н.М.
core