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Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
- S. Karle, B. Uetz, V. Ronner, Lisa Glaeser, F. Hildebrandt, A. Fuchshuber
- Journal of the American Society of Nephrology…
- 1 February 2002
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 in… Expand
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 in… Expand
- Open Access
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
- Kathrin Burgmaier, K. Kunzmann, +127 authors M. Liebau
- The Journal of pediatrics
- 1 August 2018
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 for… Expand
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 risk… Expand
Transienter Pseudohypoaldosteronismus – eine wichtige Differenzialdiagnose des Adrenogenitalen Syndroms
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
- K. Riedhammer, M. Braunisch, +17 authors J. Hoefele
- American journal of kidney diseases : the…
- 28 April 2020
RATIONALE & OBJECTIVE Hereditary nephropathies are clinically and genetically heterogeneous disorders. For some patients, the clinical phenotype corresponds to a specific hereditary disease but… Expand
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
- Kathrin Burgmaier, G. Ariceta, +95 authors H. Nalcacioglu
- Scientific reports
- 29 September 2020
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 severe… Expand