Author

E. V. van Beers

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Open access Sep 2026

PHD Inhibitor Vadadustat: The First Drug Therapy for Triosephosphate Isomerase Deficiency

Background/Objectives: Triosephosphate isomerase deficiency (TPI Df) is an ultra-rare autosomal recessive glycolytic disorder characterized by symptoms of hemolytic anemia, progressive neuromuscular dysfunction, and early mortality. The TPI1E105D mutation (TPI1 variant p.Glu105Asp) accounts for most cases, though TPI D...

Emmanuel Scalais, Priyal S. Patel, Sidney L. Satterfield et al. · Genes · 0 citations

Open access Sep 2026

Metabolic dysregulation linked to sickling tendency in sickle cell anemia independent of HbF.

Sickle cell disease (SCD) presents substantial interindividual clinical variability that remains only partially explained by genotype, fetal hemoglobin (HbF), and co-inherited alpha-thalassemia. We investigated whether endogenous metabolites modulate the sickling tendency, independently of HbF. We analyzed 368 steady-s...

S. van der Veen, A. Idrizovic, T. Sanavia et al. · Blood Cells, Molecules & Dis... · 0 citations