نتایج جستجو برای: nephropathic

تعداد نتایج: 729  

2017
Hakan Doneray Mohammed Aldahmesh Gulsah Yilmaz Emine Cinici Zerrin Orbak

©Copyright 2017 by the Atatürk University School of Medicine Available online at www.eurasianjmed.com ABSTRACT Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complication...

Journal: :Investigative ophthalmology 1970
V G Wong T Kuwabara R Brubaker W Olson J Schulman J E Seegmiller

Electron microscopic study of conjunctival biopsies from members of one sibship each of nephropathic and benign cystinosis showed polymorphic cystine profiles abundantly distributed in fibroblasts and histiocytes. These crystalline spaces measured from 0.2(i to 2/i and were delineated marginally by intact cellular membranes. Small crystalline aggregates were found in acid-phosphatase-positive o...

2017
Aurélia Bertholet-Thomas Julien Berthiller Velibor Tasic Behrouz Kassai Hasan Otukesh Marcella Greco Jochen Ehrich Rejane de Paula Bernardes Georges Deschênes Sally-Ann Hulton Michel Fischbach Kenza Soulami Bassam Saeed Ehsan Valavi Carlos Jose Cobenas Bülent Hacihamdioglu Gabrielle Weiler Pierre Cochat Justine Bacchetta

BACKGROUND Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared w...

2016
So Ra Kim Yong-ho Lee Sang-Guk Lee Eun Seok Kang Bong-Soo Cha Jeong-Ho Kim Byung-Wan Lee

Recently, several renal tubular damage markers have gained considerable attention because of their clinical implications as sensitive and specific biomarkers for early stage diabetic kidney disease. However, little is known about the demographic and glucometabolic factors affecting levels of urinary N-acetyl-β-D-glucosaminidase (NAG), a marker of proximal tubular damage, in type 2 diabetes mell...

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