The Turkish Journal of Pediatrics
Smilar Issues: 108 Record Found
Evaluation of soluble transferring receptor levels in children with iron deficiency and beta thalassemia trait, and in newborns and their mothers
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Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment
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A case of hereditary angioedema with recurrent arthritis, erythema marginatum-like rash and chest pain
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Back to the basics: hemorrhage after vaccination: a case report
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Assessment of goiter prevalence, iodine status and thyroid functions in school-age children of rural Yusufeli district in eastern Turkey
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A newborn infant with generalized glutathione synthetase deficiency
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Influence of iodine supplementation on serum insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) levels in severe iodine deficiency
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Triple-X syndrome accompanied by congenital adrenal hyperplasia: case report
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A case with ICF syndrome lost to rubella pneumonitis
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Neutrophil hypersegmentation and thrombocytosis in children with iron deficiency anemia
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Urinary tract infection and hyperbilirubinemia
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Does maternal iron supplementation during the lactation period affect iron status of exclusively breast-fed infants?
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Effects of iron deficiency versus iron deficiency anemia on brainstem auditory evoked potentials in infancy
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Cholestatic hepatitis as a result of severe cortisol deficiency in early infancy: report of two cases and review of literature
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A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies
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Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient
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Genetic factors in neonatal hyperbilirubinemia and kernicterus
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Peripheral blood lymphocyte subsets in children with frequent upper respiratory tract infections
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Mild Clinical Phenotype and Subtle Radiographic Findings in an Infant with Cartilage-Hair Hypoplasia
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Plummer-Vinson Syndrome in a 15-Year-Old Boy
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Early and severe presentation of vitamin D deficiency and nutritional rickets among hospitalized infants and the effective factors
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3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
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Neurologic findings of nutritional vitamin B12 deficiency in children
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Common variable immunodeficiency: familial inheritance and autoimmune manifestations in two siblings
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Pediatric cardiac surgery under cardiopulmonary bypass in factor VII deficiency
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Is neonatal antiretroviral therapy a risk factor for NEC occurrence?
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The Etiology of Severe Neonatal Hyperbilirubinemia and Complications of Exchange Transfusion
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Hereditary C1q Deficiency: A New Family with C1qA Deficiency
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Growth Hormone Deficiency Due to Traumatic Brain Injury in a Patient with X-linked Congenital Adrenal Hypoplasia
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Primary immune deficiency disease awareness among a group of Turkish physicians
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Is Basal Serum 17-OH Progesterone A Reliable Parameter To Predict Nonclassical Congenital Adrenal Hyperplasia in Premature Adrenarche?
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Disseminated BCG as A Unique Feature of An Infant with Severe Combined Immunodeficiency
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Vitamin D-Deficient Rickets Mimicking Ankylosing Spondylitis in an Adolescent Girl
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Neonatal Exchange Transfusion for Hyperbilirubinemia in Guilan (The North Province of Iran): A 3-Year Experience
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Mevalonate Kinase Deficiency (Hyper IgD Syndrome with Periodic Fever) - Different Faces with Separate Treatments: Two Cases and Review of the Literature
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Comparison of Intensive Light-Emitting Diode and Intensive Compact Fluorescent Phototherapy in Non-Hemolytic Jaundice
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Mild Hemolytic Anemia, Progressive Neuromotor Retardation and Fatal Outcome: A Disorder of Glycolysis, Triose- Phosphate Isomerase Deficiency
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Salmonella Meningitis in a 16-Month-Old Child with AIDS
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Allergic diseases in children with primary immunodeficiencies
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Effect of Supplementary Zinc on Body Mass Index, Pulmonary Function and Hospitalization in Children with Cystic Fibrosis
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Severe Iron Deficiency Anemia and Marked Eosinophilia in Adolescent Girls with the Diagnosis of Human Fascioliasis
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Neonatal Multiple Sulfatase Deficiency with a Novel Mutation and Review of the Literature
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Effects of Seasonal Variation and Maternal Clothing Style on Vitamin D Levels of Mothers and Their Infants
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Composition of Parenteral Nutrition Solution Affects the Time of Occurrence But Not the Incidence of Cholestasis in Surgical Infants
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Comparison of Transcutaneous and Total Serum Bilirubin Measurement in Turkish Newborns
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Association between Vitamin D Deficiency and Disease Activity in Juvenile Idiopathic Arthritis
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The effect of growth hormone treatment on head circumference in growth hormone-deficient children
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Ataxia with vitamin E deficiency associated with deafness
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A rare cause of hyperbilirubinemia in a newborn: bilateral adrenal hematoma
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A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns
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Exchange transfusion in severe hyperbilirubinemia: an experience in northwest Iran
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Late Vitamin K Deficiency Bleeding in an Infant with Choledochal Cyst
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Adrenal Bleeding İn Neonates: Report Of 37 Cases*
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Glucose-6-Phosphate Dehydrogenase Activity, Structure, Molecular Characteristics and Role in Neonatal Hyperbilirubinemia in Cord Blood in Çukurova Region
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Prevalence of Selective Immunoglobulin A Deficiency in Healthy Turkish School Children
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Hypocalcemic seizure in an adolescent with Down syndrome: a manifestation of unrecognized celiac disease
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An Easily Missed Diagnosis: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency
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Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients
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Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene
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Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder
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Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency
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Recognizing immunodeficiency in children with recurrent infections: What are the predictive factors?
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Increasing vitamin D deficiency in children from 1995 to 2011
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Treatment of a patient with Kawasaki disease associated with selective IgA deficiency by continuous infusion of cyclosporine A without intravenous immunoglobulin
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A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management
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p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency
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Is there clinical value in counting nucleated red blood cells and platelet indices in primary immunodeficiency disease?
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Investigation of the frequency of iron insufficiency among infants in a population in which routine iron supplementation is implemented
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Advantage of the subcutaneous immunoglobulin replacement therapy in primary immunodeficient patients with or without secondary protein loss
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Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments
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Effects of Lactobacillus rhamnosus GG as a probiotic on neonatal hyperbilirubinemia
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Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII
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Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies
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A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment
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A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
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Severe iron deficiency anemia and anasarca edema due to excessive cow`s milk intake
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Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey
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Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
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The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia
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Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes
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The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia
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Thymic output changes in children with clinical findings signaling a probable primary immunodeficiency
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A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient
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Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population
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A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings
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Wernicke`s encephalopathy manifesting with diplopia after ileojejunostomy: report of a pediatric case with Hirschsprung disease
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Effect of gestational diabetes on the vitamin D levels in the neonates: a case control study
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Children with chronic-refractory autoimmune cytopenias: a single center experience
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A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey
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Investigation of the relationship between cord clamping time and risk of hyperbilirubinemia
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A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue
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A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency
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Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature
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Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency
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Severe isolated sulfide oxidase deficiency with a novel mutation
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Effect of maternal and infant vitamin D supplementation on vitamin D levels of breastfed infants
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Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature
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Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency
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Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood
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Iron deficiency is not always innocent in childhood: a rare diagnosis of collagenous gastritis
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Recommendations on phenylketonuria in Turkey
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AA amyloidosis presenting with acute kidney injury, curable or not?
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Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I
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Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study
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Cerebral developmental venous anomalies in children with mismatch repair deficiency
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Nutritional rickets in Turkish and refugee children aged 0-2: an increasing problem despite vitamin D prophylaxis
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DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection
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ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia
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