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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
- S. Ashraf, H. Gee, +42 authors F. Hildebrandt
- Biology, Medicine
- The Journal of clinical investigation
- 2 December 2013
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity… Expand
Childhood vasculitides in Turkey: a nationwide survey
- S. Ozen, A. Bakkaloğlu, +16 authors On behalf of Turkish Pediatric Vasculitis Study Group
- Clinical Rheumatology
- 4 April 2006
AimThe aims of this study were to evaluate the characteristics of childhood vasculitides and to establish the first registry in Turkey, an eastern Mediterranean country with a white… Expand
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we… Expand
Effects of antihypertensive agents, alpha receptor blockers, beta blockers, angiotensin-converting enzyme inhibitors, angiotensin receptor blockers and calcium channel blockers, on oxidative stress
Background Free oxygen radicals and insufficiency of antioxidant enzymes have been implicated in the pathogenesis of hypertension disease (HD). Trace elements function as a co-factor in antioxidant… Expand
A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients
Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on… Expand
The distribution of juvenile idiopathic arthritis in the eastern Mediterranean: results from the registry of the Turkish Paediatric Rheumatology Association.
OBJECTIVES To analyse the demographics, main clinical and laboratory features and subtype distribution of juvenile idiopathic arthritis (JIA) in an eastern Mediterranean country, based on a… Expand
Novel OCRL1 mutations in patients with the phenotype of Dent disease.
- B. Utsch, A. Bökenkamp, +17 authors M. Ludwig
- American journal of kidney diseases : the…
- 1 December 2006
BACKGROUND Dent disease is an X-linked tubulopathy frequently caused by mutations affecting the voltage-gated chloride channel and chloride/proton antiporter ClC-5. A recent study showed that defects… Expand
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.
Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia. Mutations in the sodium/glucose co-transporter… Expand
Idiopathic infantile hypercalcemia and renal involvement
- O. Sakallıoğlu, B. Hacıhamdioğlu, N. Balamtekın, S. Kalman, F. Gok
- International Urology and Nephrology
Idiopathic infantile hypercalcemia is recognized as a rare cause of infantile hypercalcemia. Its renal consequences include nephrocalcinosis with distal tubular dysfunction, nephrolithiasis, and… Expand
Management of abnormal postvoid residual urine in children with dysfunctional voiding.
OBJECTIVES To evaluate the effect of biofeedback therapy on the residual urine volume in children with dysfunctional voiding. METHODS This prospective study was conducted in children with… Expand