Search Results - "Siklar, Z"
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Nutritional status and body composition in children with inflammatory bowel disease: a prospective, controlled, and longitudinal study
Published in European journal of clinical nutrition (01-08-2020)“…Background Malnutrition and growth retardation (GR) are major extraintestinal presentations of inflammatory bowel disease (IBD) in childhood and are especially…”
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1321 The Management of Central Diabetes Insipidus in Neonatal Intensive Care Unit: Experience of Eight Cases
Published in Archives of disease in childhood (01-10-2012)“…Neonatal central diabetes insipidus (DI) is extremely rare and etiology has not been documented extensively. Asphyxia, intraventricular hemorrhage, severe…”
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Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-11-2010)“…Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either…”
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4
A novel mutation in the calcium sensing receptor gene in a neonate with severe hyperparathyroidism
Published in Genetic counseling (01-01-2014)Get more information
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5
Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-08-2008)“…Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21A2) gene. To…”
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6
"Maternal/Neonatal" iodine status in patients with prolonged physiological jaundice
Published in Experimental and clinical endocrinology & diabetes (01-07-2009)“…The increasing knowledge indicated that borderline hypothyroidism may cause neurodevelopmental disorders. Borderline compensated congenital hypothyroidism…”
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7
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis
Published in Experimental and clinical endocrinology & diabetes (01-06-2009)“…This is a report of a 13-year-old 45,X/46,XY patient who was assigned as female gender and had feminizing surgery during infancy. Psychological problems became…”
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8
Plasminogen activator inhibitor-1 (PAI-1) gene polymorphism (-675 4G/5G) associated with obesity and vascular risk in children
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-05-2006)“…Atherothrombotic complications in insulin resistance are partly attributed to impaired fibrinolysis caused by increased PAI-1 plasma levels, and 4G/5G promotor…”
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9
Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey
Published in Journal of endocrinological investigation (01-04-2019)“…Background Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2…”
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10
High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients
Published in Journal of endocrinological investigation (2024)“…Purpose We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological…”
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11
Latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and Celiac disease
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-11-2004)“…Latent autoimmune diabetes mellitus in adults (LADA) is characterized by clinical presentation as type 2 diabetes mellitus after 25 years of age, initial…”
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12
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-07-2000)“…A Hajdu-Cheney syndrome is a very rare congenital dysplastic bone disease including acro-osteolysis, short stature, characteristic facies, osteopenia,…”
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13
Multiple dose IVIG treatment in neonatal immune hemolytic jaundice
Published in Journal of tropical pediatrics (1980) (01-02-2001)“…Isoimmune hemolytic jaundice due to ABO and Rh blood group incompatibility is an important problem in the neonatal period. Intravenous immune globulin (IVIG)…”
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14
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Published in Journal of bone and mineral research (01-08-2016)“…ABSTRACT Spondyloocular syndrome is an autosomal‐recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding…”
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Response to growth hormone with respect to pubertal status on increased dose in idiopathic growth hormone deficiency: an analysis of Turkish children in the KIGS database (Pfizer International Growth Study)
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-01-2005)“…To compare the growth response to growth hormone (GH) treatment in patients with idiopathic GH deficiency (IGHD) who were prepubertal with the response of…”
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16
Pica and Intoxication in Childhood
Published in Clinical pediatrics (01-10-2000)Get full text
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17
Cytokines as a common components of two different disorders: metabolic syndrome and hemophagocytic lymphohystiositosis
Published in Experimental and clinical endocrinology & diabetes (01-02-2009)“…Increased cytokines secretion occurs in several different disorders. Hemophagocytic lymphohystiositosis (HLH) and metabolic syndrome (MS) are consist two of…”
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18
Autoimmune thyroiditis after haplo-identical stem cell transplantation for severe combined immunodeficiency
Published in Bone marrow transplantation (Basingstoke) (01-03-2009)“…Introduction: Thyroid dysfunction is a well known complication in survivors of hematopoietic stem cell transplantation, and is reported after TBI as well as…”
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An Infantile Cushing Syndrome Due to Misuse of Topical Steroid
Published in Pediatric dermatology (01-09-2004)“…: Chronic low‐dose exogenous steroid therapy in children can result in hypothalamic‐pituitary‐adrenal axis dysfunction. However, the development of Cushing…”
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Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-10-2009)“…Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of growth hormone…”
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