Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis
ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose +9 more
wiley +1 more source
Molecular mechanisms and biomarkers of total parenteral nutrition-induced hepatotoxicity revealed by iTRAQ proteomics analysis. [PDF]
Hsieh YY +10 more
europepmc +1 more source
Multi-Omics Unravels Metabolic Alterations in the Ileal Mucosa of Neonatal Piglets Receiving Total Parenteral Nutrition. [PDF]
Yan J, Zhao Y, Jiang L, Wang Y, Cai W.
europepmc +1 more source
When to consider an inborn error of immunity: clues for physicians
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
Improving neonatal total parenteral nutrition (TPN) safety and standardisation in a tertiary NICU: a multicomponent QI initiative. [PDF]
Chougula PV +4 more
europepmc +1 more source
Exposure of preterm neonates receiving total parenteral nutrition to phthalates and its impact on neurodevelopment at the age of 2 months. [PDF]
Al-Saleh I +9 more
europepmc +1 more source
ABSTRACT Background and Aim In 2018, a pasteurised donor human milk (PDHM) service was established within Australia's national blood service, Lifeblood, and subsequently expanded to a national service. Before 2018, five milk banks operated in Australia, but most infants admitted to Australian neonatal intensive care units (NICUs) still did not have ...
Laura D. Klein +82 more
wiley +1 more source
The Effects of Total Parenteral Nutrition on Plasma Aluminum Levels in Premature. [PDF]
Akin SB +3 more
europepmc +1 more source
Picc Line Associated Brachiocephalic Vein Rupture with Consequent Mediastinal Placement Causing Pneumomediastinum and Large Total Parenteral Nutrition Bilateral Effusion. [PDF]
Andrade Soares Ribeiro de Campos G.
europepmc +1 more source

