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Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant
(2015)
Urea cycle defects are a group of metabolic disorders caused by enzymatic disruption of the urea cycle pathway, transforming nitrogen to urea for excretion from the body. Severe cases present in early infancy with ...
Bloody Nipple Discharge As A Benign, Self-Limiting Disorder in Young Children: A Systematic Review Including Two Related Case Reports
(2015)
Background/purpose: Bloody nipple discharge (BND) is rare, distressing for parents, and presents a challenge for physicians.
Methods: We used PubMed to search for cases of BND that were diagnosed before adolescence and ...
Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child
(2015)
Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial ...
Results of Pediatric Liver Transplant: A Single-Center Experience
(2015)
Objectives: Liver transplant is an established curative therapy for children with chronic end-stage liver disease or acute liver failure. In this study, we aimed to evaluate pediatric liver transplant in terms of outcomes, ...
HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction
(2015)
Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have ...