Results 91 to 100 of about 397 (122)

Rare cause of recurrent acute pancreatitis in teenage man. [PDF]

eGastroenterology
Lai Y, Pan J, Peng K, Wu D, Wen L.
europepmc   +1 more source

Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis. [PDF]

Metabolites
Mutamuliza J, Gori E, Mutesa L, Debray FG.   +3 more
europepmc   +1 more source

Cross-country multi-modal evidence links Aspergillus to biliary atresia. [PDF]

Gut Pathog
Huang SW, Lin CR, Chang YH, Ni YH, Chen HL, Liu HH.   +5 more
europepmc   +1 more source

Pathogenesis and Management of Citrin Deficiency. [PDF]

Intern Med
Hayasaka K.
europepmc   +1 more source

The significance of machine learning in neonatal screening for inherited metabolic diseases. [PDF]

Front Pediatr
Yang X, Ding S, Zhang J, Hu Z, Zhuang D, Wang F, Wu S, Chen C, Li H.   +8 more
europepmc   +1 more source

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry. [PDF]

Int J Neonatal Screen
Tang C, Li L, Chen T, Li Y, Zhu B, Zhang Y, Yin Y, Liu X, Huang C, Miao J, Zhu B, Wang X, Zou H, Han L, Feng J, Huang Y.   +15 more
europepmc   +1 more source

Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022. [PDF]

Front Genet
Wang D, Zhang J, Yang R, Zhang D, Wang M, Yu C, Yang J, Huang W, Liu S, Tang S, He X.   +10 more
europepmc   +1 more source

A rare case report: multiple intrahepatic masses in a pediatric patient with citrin deficiency. [PDF]

Discov Oncol
Lin H, Jiang H, Chen Q, Pan X, Deng M, Cai XR, Lu YZ, Song YZ, Liu JC.   +8 more
europepmc   +1 more source

Cost-effectiveness analysis of tandem mass spectrometry compared to fluorescence analysis for screening neonatal genetic metabolic diseases. [PDF]

BMC Health Serv Res
Zhou S, Xiao D, Huang Z, Weng J, Luo B, Chen Y.   +5 more
europepmc   +1 more source

Nutritional support therapy for liver transplantation in an adult-onset type II citrullinemia patient: a case report. [PDF]

Front Nutr
Du Y, Fu YY, Yue Y, Han B, Zhang WJ, Yu DC, Bian XJ.   +6 more
europepmc   +1 more source