Results 101 to 110 of about 475,319 (124)

Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of <i>SLC25A13</i> Gene Mutations in Hefei, China. [PDF]

Int J Neonatal Screen
Ma Q, Chen J, Huang Y, Wang Y, Song W, Xu H, Wan Y, Hu H.   +7 more
europepmc   +1 more source

Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience. [PDF]

Orphanet J Rare Dis
Ju H, Wang J, Wang X, Qu W, Zeng Z, Liu Y, Zhang H, Sun LY, Wei L, Zhu ZJ.   +9 more
europepmc   +1 more source

Metformin's disruption of gluconeogenesis in type 2 diabetes impairments of the cori and alanine cycles as hidden drivers of metabolic waste accumulation, NF-κBHIF-1α-mediated low-grade inflammation, and multisystem dysfunction. [PDF]

Probl Endokrinol (Mosk)
Akl M, Ahmed A.
europepmc   +1 more source

Current status in paediatric liver transplantation for inherited metabolic diseases. [PDF]

J Pediatr Gastroenterol Nutr
Hadzic N, Dionisi-Vici C, Vara R.
europepmc   +1 more source

The accumulation of methylglyoxal and acrolein impairs arginine homeostasis causing hyperglycemia and renal abnormalities in male zebrafish. [PDF]

Nat Commun
Li S, Li H, Zhang X, Ge R, Bennewitz K, Poschet G, Buettner M, Fleming T, Hausser I, Szendroedi J, Nawroth PP, Kroll J.   +11 more
europepmc   +1 more source

Metabolic reprogramming in aortic diseases: insights from metabolomics and therapeutic opportunities. [PDF]

Med Rev (2021)
Liu Y, Zhao L, Zhang C, Ruan X, Yu H, Cao Y, Ju W, Lu H.   +7 more
europepmc   +1 more source

Loss of ATP-Dependent Citrate Lyase Drives Left Ventricular Dysfunction by Metabolic Remodeling. [PDF]

Circulation
Liu S, Gammon ST, Tan L, Gao Y, Kim K, Elbatreek MH, Arrieta A, Williamson IK, Salazar RL, Pham J, Davidian A, Khanna Neicheril R, Gould BD, Vitrac H, Sadiq A, Dinh AQ, Lien EC, de Luna Vitorino FN, Gongora JM, Martinez SA, Odenkirk MT, Boatman AK, Chappel JR, Czer LSC, Kransdorf EP, Lefer DJ, Hanson BM, Garcia BA, Baker EM, Vander Heiden MG, Lorenzi PL, Taegtmeyer H, Piwnica-Worms D, Martin JF, Karlstaedt A.   +34 more
europepmc   +1 more source

Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement. [PDF]

Int J Mol Sci
Holeček M.
europepmc   +1 more source

Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency. [PDF]

Ann Indian Acad Neurol
Maramattom BV, Saul P.
europepmc   +1 more source

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes. [PDF]

NPJ Metab Health Dis
Allegri G, Poms M, Zürcher N, Rüfenacht V, Rimann N, Mathis D, Thöny B, Gautschi M, Husain RA, Karall D, Orchel-Szastak K, Porta F, Roland D, Siri B, Dionisi-Vici C, Santer R, Häberle J.   +16 more
europepmc   +1 more source