Results 101 to 110 of about 115,827,059 (170)

Citrin Deficiency: Biochemical Mechanisms Underlying a Complex Hepatic Metabolic Disorder. [PDF]

Biomolecules
García-Lobo I, Del Arco A, Satrústegui J, Contreras L.   +3 more
europepmc   +1 more source

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II. [PDF]

Eur J Case Rep Intern Med
Truong TH, Kim NT, Do DL, Vu MP, Nguyen MT, Le HA, Le TT.   +6 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

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

Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases. [PDF]

J Clin Med
Pham TNQ, Vo VH, Nguyen QH, Trinh TTT, Vo TD.   +4 more
europepmc   +1 more source

Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform. [PDF]

Am J Hum Genet
Feierman ER, Whittaker MN, Quigley A, Brooks DL, McVeigh P, Nan AX, Hsu A, Said H, Soliman OY, Giovenco R, Davidson BL, Alameh MG, Liu DR, Wang X, Musunuru K, Ahrens-Nicklas RC.   +15 more
europepmc   +1 more source

PP–022 Late-onset citrullinemia type 1 mimicking acute liver failure: a case report

BMJ Paediatrics Open
Hasan Önal, Elif Çoban, Şeyma Hanım Topuz   +2 more
doaj   +1 more source

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition. [PDF]

J Inherit Metab Dis
Veraldi S, Basso MS, Soglia G, Cirelli R, Spagnoletti G, Bernabei SM, Esposito A, Rizzo C, Cairoli S, Martinelli D, Monti L, Spada M, Pietrobattista A, Dionisi-Vici C.   +13 more
europepmc   +1 more source