Results 101 to 110 of about 1,137 (152)

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency. [PDF]

J Inherit Metab Dis
Ribeiro-Constante J, Tangeraas T, García-Cazorla A.   +2 more
europepmc   +1 more source

Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease. [PDF]

Cell Rep Med
Brigatti KW, Rodrigues A, Sweigert E, Williamson J, Koehler A, Meier GL, Poskitt LE, Carson VJ, Robinson D, Strauss KA.   +9 more
europepmc   +1 more source

IDH3A Deficiency Compromises Adaptive Thermogenesis and Exacerbates Obesity-Induced Metabolic Dysfunction via Impaired BCKDHA-Dependent BCAA Catabolism. [PDF]

Diabetes
Lu X, Bai N, Lyu J, Sun J, Su Y, Ye Y, Hu T, Liu T, Li W, Li X, Ma X, Yang Y, Bao Y.   +12 more
europepmc   +1 more source

Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice. [PDF]

Mol Ther
Wang J, Turgeon CT, Loken PR, Gray-Edwards H, Gao G, Tortorelli S, Wang D, Strauss KA.   +7 more
europepmc   +1 more source

Branched-chain amino acid transaminase 1-mediated pathway promotes proline-dependent collagen production in cardiac myofibroblasts. [PDF]

J Clin Invest
Takizawa N, Hironaka T, Watanabe H, Suetsugu H, Yoshioka K, Horii Y, Nagata Y, Matoba H, Kosako H, Hamase K, Hirai G, Nakaya M.   +11 more
europepmc   +1 more source

Rumen epithelial functional adaptation in alpine ewes: transcriptomic effects of micronutrient premix and concentrate supplementation levels. [PDF]

Stress Biol
Cheng J, Cheng Y, Zhang B, Gebeyew K, Yan A, Hu F, Li J, Liu J, Zhao W, Kang J, Tan Z, He Z.   +11 more
europepmc   +1 more source

The impact of supplementation with iso-branched chain fatty acids in a mouse model of atherosclerosis. [PDF]

Mol Biol Rep
Zwara A, Jedrzejewska A, Olszewska D, Tomczyk M, Sledzinski T, Mika A.   +5 more
europepmc   +1 more source

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease. [PDF]

Eur J Pediatr
Oral-Cebeci S, Aktuğlu-Zeybek Ç, Aslan B, Uysal ÖY, Cansever MŞ, Kıykım E, Zubarioglu T.   +6 more
europepmc   +1 more source

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]

Orphanet J Rare Dis
Sulaiman RA, Altassan R, Alshammari R, Alsayed M, Sheikh AN, Nicolas-Jilwan M, Al-Owain M, Al-Hassnan Z.   +7 more
europepmc   +1 more source

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China. [PDF]

QJM
Yang X, Yang R, Zhang T, Tan DJ, Pan R, Chen Z, Wu D, Chen C, Xu Y, Zhang L, Li X, Shu Q, Hu L.   +12 more
europepmc   +1 more source