Results 31 to 40 of about 883 (149)

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

Journal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair   +2 more
doaj   +1 more source

An NCBP3-Domain Protein Mediates Meiotic Silencing by Unpaired DNA

G3: Genes, Genomes, Genetics, 2020
In the filamentous fungus Neurospora crassa, genes unpaired during meiosis are silenced by a process known as meiotic silencing by unpaired DNA (MSUD).
Erin C. Boone, Hua Xiao, Michael M. Vierling, Logan M. Decker, Victor T. Sy, Rana F. Kennedy, Marilyn A. Bonham, Shannon F. Schmitz, Annie M. John, Thomas M. Hammond, Patrick K. T. Shiu   +10 more
doaj   +1 more source

Investigating the Roles and Interactions of Sad-6 within the Parameters of Meiotic Silencing by Unpaired Dna ( Msud ). [PDF]

, 2016
Meiotic silencing by unpaired DNA (MSUD) is a process observed in the model organism Neurospora crassa. During this process unpaired DNA between homologous chromosomes is detected and silenced, resulting in the suppression of unpaired genes.
Smith, Zachary J
core   +1 more source

A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene [PDF]

Iranian Journal of Neonatology, 2017
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex.
Alieh Mirzaee, Narges Pishva, Zohreh Karamizadeh, Jurgen Kohlhase, Shahnaz Purarian, Fariba Hemmati, Mostajab Razavi, Shiva Nasirabadi   +7 more
doaj   +1 more source

A Case of Maple Syrup Urine Disease Diagnosed in Adulthood

Annals of Internal Medicine: Clinical Cases, 2022
Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case
Janaki D. Vakharia, Matthew L. Lorenz, Chanika Phornphutkul   +2 more
doaj   +1 more source

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Колекція ботаніка Г. Й. Потапенка з фондів гербарію Одеського національного університету ім. І. І. Мечникова (MSUD) [PDF]

, 2015
Ре­цен­зія на книгу: С.Г. Коваленко, О.Ю. Бондаренко, В.В. Немерцалов, Н.В. Герасимюк, Т.В. Васильєва. Скар­би гер­ба­рію ОНУ (MSUD). Гер­бар­на колек­ція Г.Й. По­та­пен­ка. – Оде­са: Ос­ві­та Ук­ра­ї­ни, 2014.
Шиян, Н.М.
core   +1 more source

Evaluation of a Targeted LC–MS/MS Assay for Clinical Quantification of Urinary Organic Acids

Journal of Mass Spectrometry, Volume 61, Issue 8, August 2026.
ABSTRACT Gas chromatography–mass spectrometry (GC–MS) is the reference method for urine organic acid analysis but requires complex sample preparation and derivatization, limiting routine clinical use. We developed and validated a targeted Liquid chromatography–tandem mass spectrometry (LC–MS/MS) method for quantifying urinary organic acids relevant to ...
Earnest J. P. Daniel, Emily Garnett, Deepthi Rajapakshe, Sridevi Devaraj   +3 more
wiley   +1 more source

Artificial Nutrition Support During Acute Illness in Pregnancy: A Scoping Review

Journal of Human Nutrition and Dietetics, Volume 39, Issue 4, August 2026.
ABSTRACT Background The delivery of artificial nutrition support during acute illness in patients who are pregnant is complex with considerations for both maternal and foetal health outcomes. However, there is little known about the research available to guide the artificial nutrition support during pregnancy.
Danielle E. Bear, Hanna Tejani, Ali Morrison, Kevin Whelan   +3 more
wiley   +1 more source

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review

BMC Medical Genomics
Background Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Salma Younes, Razan Elkahlout, Houda Kilani, Sarah Okashah, Hussain Al Sharshani, Zoulikha Rezoug, Hatem Zayed, Nader Al-Dewik   +7 more
doaj   +1 more source