Area of research
Pathology and Forensic Medicine · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Medicine, Cystinosis, Cysteamine, Lysosomal storage disease, Cell biology, and Biology.
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dent disease: clinical practice recommendations
Impact of preterm birth on kidney health and development
International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis
The potential of RNA-based therapy for kidney diseases
Glomerular hyperfiltration: part 2—clinical significance in children
Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points
Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis
Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis
Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia
Sickle cell nephropathy: insights into the pediatric population
A Patient with neonatal cholestasis.
Cystinuria: clinical practice recommendation
APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin
Renal Precision Medicine in Neonates and Acute Kidney Injury: How to Convert a Cloud of Creatinine Observations to Support Clinical Decisions
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
A focus on the association of Apol1 with kidney disease in children
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
FGF23 and its role in X-linked hypophosphatemia-related morbidity
NLRP2 Regulates Proinflammatory and Antiapoptotic Responses in Proximal Tubular Epithelial Cells