Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Askin Sen"'
Autor:
Mehmet KILIC, Omer GUNBEY, Erdal TASKIN, Bunyamin DAG, Elif KUCUK, Fatma Betul GUNBEY, Askin SEN
Publikováno v:
Asthma Allergy Immunology. :3-10
Publikováno v:
Volume: 16, Issue: 2 160-164
Türkiye Çocuk Hastalıkları Dergisi
Türkiye Çocuk Hastalıkları Dergisi
Ağır konjenital nötropeniler (AKN), nadir görülen olgun nötrofillerin eksikliği ile karakterize primer bir immün yetersizlik hastalığıdır. Klinik özellikler arasında doğumdan itibaren azalmış mutlak nötrofil sayısı, tekrarlayan ve
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1425-1433
Objectives Hypotonia, lethargy, eczema, alopecia, conjunctivitis, ataxia, hearing loss, optic atrophy, cognitive retardation, and seizures can occur in patients with biotinidase deficiency, and it is inherited as autosomal recessive. The aim of this
Publikováno v:
Asthma Allergy Immunology. 19:50-55
Oculocutaneous albinism (OCA) is a disorder of melanin biosynthesis characterized by hypopigmentation of the skin, hair, and retinal pigment epithelium. We present the clinical and laboratory features of two siblings, born to consanguineous Turkish p
Publikováno v:
Pediatric Allergy, Immunology, and Pulmonology. 32:63-69
Background: The association between vitamin D receptor (VDR) polymorphisms and the risk of asthma remains unclear. This study aimed to investigate the effect of VDR gene polymorphisms and VDR mRNA expression levels on respiratory function, nitric oxi
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:95-99
Background: Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date. Case presentation: We report a patient with hypoglycemia, precocious puberty and diffuse testicular microlithiasis accompanying BRRS,
Publikováno v:
Turkish Journal of Hematology
Turkish Journal of Hematology, Vol 37, Iss 4, Pp 299-300 (2020)
Turkish Journal of Hematology, Vol 37, Iss 4, Pp 299-300 (2020)
Publikováno v:
Clinical dysmorphology. 27(4)
Publikováno v:
Hormones (Athens, Greece). 17(2)
Congenital isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rarely seen disease characterized by low serum ACTH and cortisol levels accompanied by normal levels of the other anterior pituitary hormones. In these patients, severe hypo
Publikováno v:
The Eurasian Journal of Medicine. 46:220-223
WOS: 000420435000014 PubMed ID: 25610329 Chromosomal rearrangements are usually associated with male factor infertility. We report here a 34-year-old man suffering from primary infertility for 15 years. The cytogenetic analysis and investigation of Y