Results 91 to 100 of about 1,894 (150)

Intestinal dysfunction in the critical trauma patients. An early and frequent event [PDF]

, 2017
Background: Small-bowel dysfunction exerts a relevant prognostic impact in the critically ill patients. Citrullinemia has been used in the evaluation of the intestinal function and it is considered an objective parameter of the functional enterocyte ...
Martins,Paulo, Pimentel,Jorge, Tomé,Marisa, Pinto-da-Costa,Beatriz, Simões,Marta, Veríssimo,Carla, Grazina,Manuela, Castro-Sousa,Francisco   +7 more
core  

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study. [PDF]

Nutrients
Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +7 more
europepmc   +1 more source

Feeding Intolerance and Citrulline Generation Test in the Critically Ill: A Prospective Study. [PDF]

Nutrients
Hild C, Vieille T, Puyraveau M, Winiszewski H, Riedweg KM, Piton G.   +5 more
europepmc   +1 more source

Citrullinemia type 1 manifesting with a stroke-like episode: a case report. [PDF]

Oxf Med Case Reports
Zayed A, Abdul-Hafez HA, Ashhab M, Dweikat I.   +3 more
europepmc   +1 more source

<i>Cynara scolymus</i> Extract-Inulin Feed Additive Improves Intestinal Function and Growth in Weaned Piglets. [PDF]

Animals (Basel)
Martínez G, Decundo JM, Diéguez SN, Pérez Gaudio DS, Bianchi CP, Colusi E, Amanto FA, Soraci AL.   +7 more
europepmc   +1 more source

Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort. [PDF]

Children (Basel)
Lee CY, Niu DM, Yang CF, Chen YJ.
europepmc   +1 more source

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders. [PDF]

Sci Rep
Posset R, Epp F, Garbade SF, Gleich F, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M.   +8 more
europepmc   +1 more source

Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study. [PDF]

Front Pediatr
Tagi VM, Montanari C, Tosi M, Stucchi E, Cartalemi AME, Gandini L, Eletti F, Perico V, Borsani B, Fiori L, Calcaterra V, Zuccotti G.   +11 more
europepmc   +1 more source

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I. [PDF]

Sci Transl Med
Tálas A, Ioannidi EI, Weber Y, Haenggi T, Kulcsár PI, Zürcher N, Faccin E, Moon WJ, Kissling L, Villiger EA, Matsushita M, Rothgangl T, Janjuha S, Lin PJC, Poms M, Muramatsu H, Vadovics M, Reichmuth A, Kopf M, Pardi N, Tam YK, Häberle J, Schwank G.   +22 more
europepmc   +1 more source

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