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Congenital Hyperinsulinism And Evolution To Sulfonylurearesponsive Diabetes Later In Life Due To A Novel Homozygous P.L171F Abcc8 Mutation
(2019)
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. ...
Coexistence Or A Related Condition: An Infant With Retinoblastoma And Gaucher Disease
(2019)
Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid beta-glucosidase due to mutations in the glucocerebrosidase gene. Common features of all types of GD ...
Comparison Of Two Cleaning Methods Intaking Urine Culture Samples In Children
(2019)
Introduction: Urinary tract infection is one of the most prevalent bacterial infections among children. Difficulty in specimen collection and interpretation of improperly collected specimens may cause misdiagnosis of the ...
Coexistence Of Frey Syndrome And Cutaneous Mastocytoma
(2019)
Auriculotemporal or Frey syndrome in children is rare and often misdiagnosed as food allergy. Here, we report a case of Frey syndrome and coincidental cutaneous mastocytoma in a 6-month-old boy. In view of the benign nature ...
Classification Criteria For Autoinflammatory Recurrent Fevers
(2019)
Background Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), ...
Clinical Outcomes Of Two Patients With A Novel Pathogenic Variant In Asns: Response To Asparagine Supplementation And Review Of The Literature
(2019)
Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It manifests with microcephaly, intractable seizures, and progressive ...
Chronic Recurrent Multifocal Osteomyelitis In Children: A Single Center Experience Over Five Years
(2019)
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease characterized by sterile bone inflammation. It is an orphan disease with many unclear aspects in terms of diagnosis, treatment and follow-up. The aim of ...
Clinical And Molecular Spectrum Of Glucose-6-Phosphate Isomerase Deficiency. Report Of 12 New Cases
(2019)
Glucose-6-phosphate isomerase (GPI, EC 5.3.1.9) is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second reaction step of glycolysis. GPI deficiency, ...
Clinic Features, Follow-Up And Treatment Options Of Acute Paronychia In Children: Hacettepe University Experience
(2019)
Objective: Paronychia, the inflammation of proximal and lateral nail folds and, is the most commonly encountered hand infection. In this study, it was aimed to evaluate the clinical features and treatment options of ...