Results 271 to 280 of about 26,855 (306)
Carbonic anhydrase VA deficiency due to a novel <i>CA5A</i> variant. [PDF]
Keehan L +6 more
europepmc +1 more source
Abstract There are difficulties with the standardisation of interpretative strategies for peak oxygen uptake (peak V̇O2${\dot V_{{{\mathrm{O}}_2}}}$) related to the quality of reference equations. We aimed to investigate the utility of peak V̇O2Q${\dot V_{{{\mathrm{O}}_2}{\mathrm{Q}}}}$, a novel method reflecting how far a measured value is from the ...
Ben Knox‐Brown +4 more
wiley +1 more source
Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept. [PDF]
Kang Z, Zhang L.
europepmc +1 more source
Abstract figure legend Schematic representation of proposed relationship between hyperglycaemia, gestational diabetes mellitus (GDM), active BCR‐related (ABR), RhoA and actin organization of feto‐placental arterial endothelial cells (fpEC). Hyperglycaemia upregulates ABR, which in turn increases RhoA activation.
Silvija Tokic +9 more
wiley +1 more source
Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]
Upadia J +5 more
europepmc +1 more source
Neonatal Hyperammonemia Due to Ureaplasma Sepsis
Catherine A. Kronfol +2 more
doaj +1 more source
Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]
Harings T +6 more
europepmc +1 more source
Pediatric Liver Transplantation Under Therapy With Cyclosporin-A and Steroids. [PDF]
Gartner, JC +5 more
core

