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Two novel deletions in hypotonia-cystinuria syndrome.
Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneousExpand
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A New Mutation in Blau Syndrome
Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis.Expand
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Acquired Bartter-Like Syndrome Associated with Colistin Use in a Preterm Infant
Acquired Bartter-like syndrome (BLS), characterized by hypokalemic metabolic alkalosis, hypomagnesemia, hypocalcemia, and normal kidney function, can be induced by diuretics or antibiotics. It is aExpand
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Elevated Urinary T Helper 1 Chemokine Levels in Newly Diagnosed Hypertensive Obese Children
Objective: Increasing evidence suggests that T helper (Th) cells play a significant role in the pathogenesis of hypertension. The aim of this study was to evaluate the effect of obesity andExpand
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Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome
Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome.Expand
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İdrar interlökin-13, CD80, CD28, matriks metaloproteinaz-2 ve granzim B‘nin çocukluk çağı minimal değişim nefrotik sendrom patogenezindeki rolleri
Objective: Minimal change disease (MCD) is the most common cause of nephrotic syndrome in childhood but its pathogenesis remains poorly understood. A T-cell-derived factor or factors were initiallyExpand
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Renal Involvement in Behcet’s Disease -
Introduction Behçet’s Disease (BD) is a multisystem disorder characterized by vasculitis. It was first described in 1937, as the triad of recurrent uveitis, recurrent oral and genital ulcers [1].Expand
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