Results 71 to 80 of about 1,132 (104)

Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency. [PDF]

BMJ Case Rep
McCormick BJ, Ritchie LV, Porter IE.
europepmc   +1 more source

Endothelial Arginine Metabolism in Angiogenesis: Mechanistic Insights from Tissue Repair to Tumor Progression. [PDF]

Metabolites
Arce-Recatala C, Oberkersch RE.
europepmc   +1 more source

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry. [PDF]

Nutrients
Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortès-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de Los Santos M, García-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M, Quijada-Fraile P.   +48 more
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Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe OTC deficiency. [PDF]

Mol Ther
Zhou J, Liang S, Yin L, Frassetto A, Graham AR, White R, Principe M, Severson M, Palmer T, Naidu S, Jacquinet E, Zimmer M, Finn PF, Martini PGV.   +13 more
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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. [PDF]

Genet Med
Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC, Young LR, Voss LA, Reichert SL, Gallo DJ, Cohen JS, Bonkowsky JL, Keller SR, Bennett ML, Pizzino AM, Swantkowski M, Arnold K, Fraser JL, Emerson FJ, Miettunen K, Fatemi A, Van Haren KP, Adang L, Waldman A, Emrick L, Eichler F, Vanderver A.   +23 more
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Expert consensus on the combined screening of genes and biomarkers for neonatal diseases. [PDF]

World J Pediatr
Huang XW, Zhang T, Hu ZZ, Wang ZG, Luo XP, Yang YL, Han LS, Gu XF, Xiao GR, Zhu BS, Yang RL, Wang WP, Huang YL, Jiang JH, Wang H, Tian GL, Sun QL, Mao XM, Yu B, Zhu WB, Chen PL, Hu HL, Yan HM, Liu J, Nie WY, Wang F, Cai R, Jiang T, Wang XH, Xu FL, Zhou YL, Yang JP, Zou L, Wen W, Kong YY, Ou MC, Zhang YG, Ying YQ, Qiang R, Zhao DH, Jia CL, Zhang ZX, Wu BQ, Zou H, Zhao ZY.   +44 more
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Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease. [PDF]

Kidney360
Mušálková D, Radina M, Kidd K, Hartmannová H, Hartmannová H, Trešlová H, Hodaňová K, Vyleťal P, Vrbacká A, Votruba M, Sanchez A, Martin L, Taylor A, Kim A, Rudl Kulhavá L, Hricko J, Čajka T, Živná M, Bleyer AJ, Kmoch S.   +19 more
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Metabolic flux analysis revealed key roles of ArcB in ADI pathway and IlvC in BCAA biosynthesis during <i>Streptococcus suis</i> anaerobic growth and infection. [PDF]

Virulence
Tang H, Zhang Q, Yang J, Ruan Y, Zhang X, Pang S, Qiao Z, Huang J, Langford PR, Zhou R, Zhang H, Zhang Q, Li L.   +12 more
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Recurrent hyperammonemic encephalopathy in a breast cancer patient receiving capecitabine therapy: a case report and literature review. [PDF]

Front Pharmacol
Mu Y, Li Q, Kong J, Zhao Y.
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Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives. [PDF]

J Inherit Metab Dis
Gemici Karaaslan B, Kiykim A, Burtecene N, Gokden M, Cansever MS, Hopurcuoglu D, Cengiz GN, Topcu B, Zubarioğlu T, Kiykim E, Cokuğras H, Aktuglu Zeybek AC.   +11 more
europepmc   +1 more source