Biomedical Research and Pathophysiology

BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS: The initial assay of muta…

• FATİH SÜHEYL EZGÜ

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• SİREN SEZER

BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

• FATİH SÜHEYL EZGÜ

The small ciliary G protein Arl13b is required for cilium biogenesis and sonic hedgehog signaling and is mutated in patients with Joubert syndrome (JS). In this study, using Caenorhabditis elegans and mammalian cell culture systems, we investigated the poorly understood ciliary and molecular basis of Arl13b function.…

• SEBİHA ÇEVİK KAPLAN

The small ciliary G protein Arl13b is required for cilium biogenesis and sonic hedgehog signaling and is mutated in patients with Joubert syndrome (JS). In this study, using Caenorhabditis elegans and mammalian cell culture systems, we investigated the poorly understood ciliary and molecular basis of Arl13b function.…

• OKTAY İSMAİL KAPLAN

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical…

• SELÇUK YÜKSEL

OBJECTIVE: Pediatric urolithiasis is a rarely encountered pathology, except in endemic areas such as Turkey. As a recurrent pathology which may reveal functional as well and morphologic changes in the urinary tract, metabolic and environmental factors, in addition to urogenital abnormalities, should be evaluated thoro…

• MEHMET TARAKÇIOĞLU

OBJECTIVE: Pediatric urolithiasis is a rarely encountered pathology, except in endemic areas such as Turkey. As a recurrent pathology which may reveal functional as well and morphologic changes in the urinary tract, metabolic and environmental factors, in addition to urogenital abnormalities, should be evaluated thoro…

• AYŞE BİNNUR ÖZYURT

To examine the short- and long-term influences of the Marmara earthquake, which occurred on August 17, 1999 in Turkey, on glycemic control and quality of life (QOL), HbA1c, insulin requirement and QOL of 88 people with type 1 diabetes living in the quake zone were evaluated one year before (PreE), 3 months after (Post…

• MEHMET SARGIN

Cisplatin [cis-diaminedichloroplatinum(II), CDDP] is a widely used antineoplastic drug. However, it has major side-effects such as acute tubular necrosis (ATN). There are a number of studies concerning the role of reactive oxygen radical species in the pathophysiology of CDDP-dependent ATN. Several antioxidant agents…

• ENGİN ŞAHNA