Results 41 to 50 of about 3,452,999 (260)
Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016 Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido +3 more
doaj +1 more source
, 2020 Objectives: Urea cycle disorders (UCDs) are rare hereditary diseases.
YILDIZ, YILMAZ +2 more
core +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Patients with chronic kidney disease undergoing hemodialysis commonly experience reduced physical function, fatigue, poor sleep quality, and impaired health‐related quality of life. Intradialytic exercise has been proposed as a non‐pharmacological strategy to improve these outcomes.
Klebson da Silva Almeida +6 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2016 Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Patrick C Lee +14 more
doaj +1 more source
Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders [PDF]
, 2014 Sodium phenylbutyrate (NaPBA) is a commonly used medication for the treatment of patients with urea cycle disorders (UCDs). Previous reports involving small numbers of patients with UCDs have shown that NaPBA treatment can result in lower plasma levels ...
Lee, Brendan H +5 more
core +1 more source
Liver organoids: modelling complexity in homeostasis and disease
FEBS Letters, EarlyView.Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley +1 more source
FEBS Letters, EarlyView.Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise +5 more
wiley +1 more source
Molecular Oncology, EarlyView.We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober +16 more
wiley +1 more source
Current role of enzyme analysis for urea cycle disorders
, 2014 Urea cycle disorders (UCD) are due to defects of any of its six enzymes or two transporters. The definitive diagnosis of defects of the three mitochondrial enzymes, N-acetylglutamate synthase (NAGS), carbamylphosphate synthetase I (CPS1) and ornithine ...
Eggimann, Sandra +3 more
core +1 more source
The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer
Molecular Oncology, EarlyView.Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad +2 more
wiley +1 more source