Search Results - "Uzun, Ozlem"
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Fuzzy demand-driven material requirements planning: a comprehensive analysis of fuzzy logic implementation in DDMRP
Published in International journal of production research (01-11-2024)“…Demand-Driven Material Requirements Planning (DDMRP) is a new method of inventory control designed to address the challenges of today's complex and volatile…”
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A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Published in Molecular syndromology (01-12-2023)“…Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called “Schneckenbecken dysplasia”…”
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Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood
Published in Turkish journal of pediatrics (01-11-2021)“…The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency…”
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Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
Published in Journal of pediatric endocrinology & metabolism : JPEM (23-02-2023)“…MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive…”
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A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-05-2020)“…Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding…”
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Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases
Published in Annals of allergy, asthma, & immunology (01-10-2020)“…Intravenous recombinant enzyme replacement therapy (ERT) is currently available for 8 lysosomal diseases. Hypersensitivity reactions (HSRs) may be observed…”
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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
Published in European journal of pediatrics (01-03-2024)“…Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder which results from the inability of biotin-dependent carboxylase enzymes to…”
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Difficult to think about but easy to treat: scurvy
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-07-2023)“…Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative…”
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Storage location assignment of steel coils in a manufacturing company: an integer linear programming model and a greedy randomized adaptive search procedure
Published in TOP (01-04-2023)“…Warehouse operations have a significant role to survive in today’s competitive world. Hence, companies introduce various solutions to improve efficiency of…”
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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions
Published in Pediatric nephrology (Berlin, West) (01-07-2021)Get full text
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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers
Published in Pediatric nephrology (Berlin, West) (01-07-2021)Get full text
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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
Published in Journal of pediatric endocrinology & metabolism : JPEM (26-08-2021)“…Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea,…”
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Evaluation of nutritional status in pediatric patients diagnosed with Covid-19 infection
Published in Clinical nutrition ESPEN (01-08-2021)“…The aim of this study was to evaluate the nutritional status, the nutritional effect on the risk of infection and the severity of the disease, and the…”
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The Efficacy of Acupuncture in the Treatment of Bell's Palsy Sequelae
Published in Journal of acupuncture and meridian studies (01-08-2019)“…This study was planned to evaluate the effectiveness of acupuncture treatment for the treatment Bell's palsy sequelae. In this study, forty patients with…”
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Relationships between anthropometric measurements, muscle strength and body awareness
Published in Acta neurologica Belgica (01-02-2022)“…Most studies on body awareness offer data on assessment and treatment in disease situations. The aim of this study is to investigate the relationship between…”
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Health-related quality of life in adolescents with psychogenic nonepileptic seizures
Published in Epilepsy & behavior (01-12-2013)“…Abstract The aim of this study was to evaluate the health-related quality of life (HRQoL) in adolescents with psychogenic nonepileptic seizures (PNESs) and to…”
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The neuropathic pain component among patients with chronic low back-radicular pain
Published in Journal of back and musculoskeletal rehabilitation (01-01-2018)“…Determining neuropathic pain component (NPC) among patients with chronic low back pain-radicular pain (CLBP-RP) and the adjustment between scales of…”
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Estimation of Stature from Upper Extremity Anthropometric Measurements
Published in Journal of clinical and diagnostic research (2019)“…Introduction: Stature is one of the most important biological profiles for identification procedures. However, major difficulties are experienced in the…”
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Successful sebelipase alfa desensitization in a pediatric patient
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-02-2019)“…The infantile form of the disease (frequently called Wolman disease) presents as rapid progression and death before 1 year of age.1 Sebelipase alfa, a…”
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