Patricia Borde
Laboratoire National de Santé(LU)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Cystic Fibrosis Research Advances, Autoimmune and Inflammatory Disorders Research, Iron Metabolism and Disorders, Folate and B Vitamins Research
Most-Cited Works
- → Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010(2021)225 cited
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients(2021)41 cited
- → Regulatory landscape of providing information on newborn screening to parents across Europe(2020)21 cited
- → Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses(2019)12 cited
- → Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?(2023)5 cited
- → Serum H‐Ferritin‐To‐Ferritin Ratio as a Biomarker of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients With Hyperferritinemia(2026)
- → Increased serum h-ferritin and its imbalance with l-ferritin distinguish hemophagocytic lymphohistiocytosis among critically ill patients with hyperferritinemia.(2025)
- → What is the added value of liquid chromatography-tandem mass spectrometry for routine urine drug screening in clinical situations?(2022)
- → P028 Cystic fibrosis newborn screening in Luxembourg: 7 years’ experience(2025)