Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases. [PDF]
Schumann A +3 more
europepmc +1 more source
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. [PDF]
Crenshaw MM +11 more
europepmc +1 more source
PAX3-FOXO1 Drives Targetable Cell State-Dependent Metabolic Vulnerabilities in Rhabdomyosarcoma. [PDF]
Paras KI +14 more
europepmc +1 more source
Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression. [PDF]
Alotaibi AZ +11 more
europepmc +1 more source
Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation. [PDF]
Zubarioglu T +11 more
europepmc +1 more source
Plasma Metabolic Outliers Identified in Estonian Human Knockouts. [PDF]
Yu K +9 more
europepmc +1 more source
Increased renal elimination of endogenous and synthetic pyrimidine nucleosides in concentrative nucleoside transporter 1 deficient mice. [PDF]
Persaud AK +22 more
europepmc +1 more source
Adenylosuccinate synthetase deficiency and purine nucleotide cycle disruption impair neuromuscular function in Caenorhabditis elegans. [PDF]
Patil RR +3 more
europepmc +1 more source
Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol. [PDF]
Zharmakhanova G +9 more
europepmc +1 more source
Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]
Hergenrother S +4 more
europepmc +1 more source

