Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]
Grillet PE +8 more
europepmc +1 more source
Use of matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) to visualize and support interpretation of toxic effects of 4-hydroxyphenylpyruvate dioxygenase inhibitors in rat tissues. [PDF]
Schneider R +10 more
europepmc +1 more source
Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids. [PDF]
Petkova D +3 more
europepmc +1 more source
A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]
Park YA +4 more
europepmc +1 more source
Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]
Monostori P +23 more
europepmc +1 more source
Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines. [PDF]
Kuypers AM +5 more
europepmc +1 more source

