paediatrics
paediatrics

Efficacy and safety of mycophenolate mofetil in patients with high-grade locally advanced or metastatic osteosarcoma (ESMMO): a multicenter, phase II clinical trial

Int J Clin Oncol. 2025 Sep 12. doi: 10.1007/s10147-025-02877-0. Online ahead of print. ABSTRACT BACKGROUND: Osteosarcoma is a prevalent and aggressive bone malignancy primarily affecting …

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase 2 deficiency with severe hyperglycemia in a child: A rare case report

J Int Med Res. 2025 Sep;53(9):3000605251375537. doi: 10.1177/03000605251375537. Epub 2025 Sep 12. ABSTRACT Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase 2 (HMGCS2) deficiency is an exceptionally rare autosomal …

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

J Inherit Metab Dis. 2025 Sep;48(5):e70088. doi: 10.1002/jimd.70088. ABSTRACT In 2007, the Dutch newborn screening (NBS) program was expanded to include C5-OH as a marker …

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency

J Inherit Metab Dis. 2025 Sep;48(5):e70086. doi: 10.1002/jimd.70086. ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease characterized by hepatosplenomegaly, pulmonary dysfunction, dyslipidemia, …