Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng+10 more
wiley +1 more source
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism. [PDF]
Safarikia S+21 more
europepmc +1 more source
Results of the cord blood transplantation study (COBLT): Clinical outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with inborn errors of metabolism [PDF]
Joanne Kurtzberg+6 more
openalex +1 more source
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far+4 more
wiley +1 more source
[Epilepsy and inborn errors of metabolism]. [PDF]
Moya-López S+7 more
europepmc +1 more source
Molecular diagnosis and inborn errors of metabolism: A practitioner’s view
Stephen D. Cederbaum
openalex +1 more source
Neonatal screening for inborn errors of metabolism [PDF]
Pia Hardelid, Carol Dezateux
openalex +1 more source
Guidelines exist to limit seizure‐provoking visual stimuli. However, existing recommendations are not universally applied, and poorly regulated flickering lights are easily encountered in consumer products. Two females experienced prolonged absence seizures triggered by a red‐light flickering pen.
Karen L. Harpster+5 more
wiley +1 more source
Inborn errors of metabolism in neonates and pediatrics on varying dialysis modalities: a systematic review and meta-analysis. [PDF]
Raina M+6 more
europepmc +1 more source
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism [PDF]
Christian Baumgärtner+1 more
openalex +1 more source