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Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease inExpand
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Novel Mutations in NPHS 2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of endstage renal disease inExpand
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  • Open Access
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
Objective To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis forExpand
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Intracranial hemorrhage in immune thrombocytopenia (ITP): fatal course in spite of maximum therapy.
We report the case of a 2-year-old boy with immune thrombocytopenia (ITP) who developed fatal intracranial hemorrhage (ICH) despite maximum therapy according to the guidelines. Hitherto defined riskExpand
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
RATIONALE & OBJECTIVE Hereditary nephropathies are clinically and genetically heterogeneous disorders. For some patients, the clinical phenotype corresponds to a specific hereditary disease butExpand
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome and to identify risk factors for severeExpand