Results 41 to 50 of about 30,957 (287)

Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease

Stem Cells Translational Medicine, 2021
Congenital metabolic diseases are a group of hereditary disorders caused by the deficiency of a single specific enzyme activity. Without appropriate therapy, affected patients suffer severe neurologic disability and eventual death.
Chika Takano, B. Grubbs, Mika Ishige, E. Ogawa, I. Morioka, S. Hayakawa, T. Miki   +6 more
semanticscholar   +1 more source

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]

, 2009
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara  jo, Ba  os, Cremer, Crome, Daniel, Dhopeshwarkar, Dodd, G. E. Homanics, H. S. Paul, Hariharan, Hauber, Homanics, J. Lazovic, J. M. Flanagan, Jan, K. C. Cheng, K. F. LaNoue, K. Griffin, K. J. Skvorak, Kamei, Killian, Le Masurier, Lowry, Lo  , M. C. Bewley, Mackenzie, McKean, Morton, O'Callaghan, Ouary, Patel, Patel, Regunathan, Schadewaldt, Schmithorst, Schonberger, Sgaravatti, She, SILBERMAN, Simon, Tews, W. J. Zinnanti, Wajner, Williamson, Yudkoff   +44 more
core   +2 more sources

Aerosol generation in public restrooms [PDF]

, 2021
Aerosolized droplets play a central role in the transmission of various infectious diseases, including Legionnaire's disease, gastroenteritis-causing norovirus, and most recently COVID-19. Respiratory droplets are known to be the most prominent source of transmission for COVID-19, however, alternative routes may exist given the discovery of small ...
arxiv   +1 more source

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders

International Journal of Molecular Sciences, 2020
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs).
Jinge Xu, Youseff Jakher, Rebecca C. Ahrens-Nicklas   +2 more
semanticscholar   +1 more source

Oral health status of children and young adults with maple syrup urine disease in Turkey

BMC Oral Health, 2021
Background Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability.
E. Ballıkaya, Yılmaz Yıldız, Nagihan Koç, A. Tokatlı, M. Uzamış Tekçiçek, H. Sivri   +5 more
semanticscholar   +1 more source

Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders

International Journal of Neonatal Screening, 2022
Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs).
Amel Omari, Sarah L. Reeves, Lisa A. Prosser, Melissa S. Creary, Ayesha Ahmad, Kao-Ping Chua   +5 more
doaj   +1 more source

Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: Report of three cases

World Journal of Clinical Cases, 2021
BACKGROUND Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder that affects branched-chain amino acid (BCAA) metabolism and is named after the distinctive sweet odor of affected infants’ urine.
Yang Li, Xia Liu, C. Duan, Xiu-feng Song, Xun-hui Zhuang   +4 more
semanticscholar   +1 more source

Maple Syrup Urine Disease and Cerebral Edema

Pediatric Neurology Briefs, 1991
Cerebral edema causing death in four children with maple syrup urine disease (MSUD) is reported from St.
J Gordon Millichap
doaj   +1 more source

Variations of Exon 2-3 of the Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha (BCKDHA) Gene and Its Flanking Intronic Region in Madura Cattle [PDF]

, 2022
Indonesia is one of a country with high biodiversity and genetic resources. One of them is Madura cattle that derived from crossing between exotic cattle, namely zebu cattle with local Indonesian cattle, namely Bali cattle. Branched-chain alpha-keto acid
Farajallah, Achmad, Febriana, Asri, Perwitasari, Dyah, Wahidah, Baiq Farhatul   +3 more
core   +2 more sources

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Stem Cell Research, 2021
Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Bin Wang, Chen Liu, Haiyan Zhang, Zhongtao Gai, Yi Liu   +4 more
doaj