Search Results - "Arslan, Zumrut"
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Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease
Published in American journal of medical genetics. Part A (01-07-2024)“…The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays in diagnosis and initiation of treatment. Delayed…”
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Inflammatory rheumatic diseases in patients with ochronotic arthropathy
Published in Modern rheumatology (03-09-2021)“…Ochronotic arthropathy (OcA) refers to excessive homogentisic acid (HGA) deposition in the musculoskeletal system. Our current understanding of OcA is limited,…”
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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement
Published in Metabolic brain disease (01-08-2021)“…Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter,…”
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Remarkable Increase in the Prevalence of Overweight and Obesity Among School Age Children in Antalya, Turkey, Between 2003 and 2015
Published in Journal of clinical research in pediatric endocrinology (01-03-2019)“…Childhood obesity (OB) is an acknowledged global problem with increasing prevalence reported around the world. We conducted this study with the aim of…”
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Orthostatic proteinuria: an overestimated phenomenon?
Published in Pediatric nephrology (Berlin, West) (01-10-2020)“…Background Although orthostatic proteinuria (OP) is the most common cause of childhood proteinuria, excluding transient proteinuria, data regarding prevalence…”
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The results of 16 years iodization: Assessment of iodine deficiency among school-age children in Antalya, Turkey
Published in Journal of clinical research in pediatric endocrinology (01-09-2020)“…Iodine deficiency (ID) continues to be a problem around the world. The present study investigates the prevalence of ID and goiter among school-age children…”
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Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
Published in Turkish journal of medical sciences (01-01-2022)“…Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of cirrhosis. Recent studies detected that…”
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Effects of topical mitomycin-C on the tracheal epithelia of rabbits following tracheostomy
Published in Turkish journal of medical sciences (30-04-2021)Get full text
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The effect of spinal versus general anesthesia on intraocular pressure in lumbar disc surgery in the prone position: A randomized, controlled clinical trial
Published in Journal of clinical anesthesia (01-05-2018)“…To compare IOP changes between spinal anesthesia (SA) and general anesthesia (GA) in patients who underwent lumbar disc surgery in the prone position…”
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Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia
Published in Medical hypotheses (01-03-2022)“…Metabolites like lipids, amino acids or peptides can affect the immune system. Citrulline is an amino acid that activates several inflammatory pathways. Serum…”
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Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients
Published in European journal of medical genetics (01-05-2021)“…Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene…”
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Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement
Published in Journal of Behçet Uz Children's Hospital (11-04-2022)“…Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a…”
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The effect of low-intensity pulsed ultrasound on rib fracture: An experimental study
Published in Türk göğüs kalp damar cerrahisi dergisi (01-01-2020)“…In this study, we aimed to investigate the effects of lowintensity pulsed ultrasound on rib fracture healing in a rat model. A total of 72 male Wistar-Albino…”
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Fabry disease in familial Mediterranean fever according to the severity of the disease
Published in Reumatología clinica (01-11-2024)“…Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical…”
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Fabry disease in familial Mediterranean fever according to the severity of the disease
Published in Reumatología clinica (Barcelona) (01-11-2024)“…Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical…”
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