dc.contributor.author | Atas, Nurgul | |
dc.contributor.author | Akbulut, Emis Deniz | |
dc.contributor.author | Oz, Ozlem | |
dc.contributor.author | Karaca, Meryem | |
dc.contributor.author | YILMAZ, FATMA MERİÇ | |
dc.contributor.author | Ercan, Mujgan | |
dc.date.accessioned | 2021-03-06T21:27:03Z | |
dc.date.available | 2021-03-06T21:27:03Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Ercan M., Akbulut E. D. , Oz O., Atas N., Karaca M., YILMAZ F. M. , "Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey", JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.1, ss.89-94, 2021 | |
dc.identifier.issn | 0334-018X | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_fec40ab2-2484-4fd7-839c-c126fe6df0f8 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/166586 | |
dc.identifier.uri | https://doi.org/10.1515/jpem-2020-0382 | |
dc.description.abstract | Objectives: Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed to evaluate the results of biochemical enzyme activity in accordance with the presence of genetic mutations and investigate the correlation between genotype and biochemical phenotype together in the study. | |
dc.language.iso | eng | |
dc.subject | İç Hastalıkları | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Endocrinology | |
dc.subject | Endocrine and Autonomic Systems | |
dc.subject | Pediatrics | |
dc.subject | Pediatrics, Perinatology and Child Health | |
dc.subject | Endocrinology, Diabetes and Metabolism | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | PEDİATRİ | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.title | Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | |
dc.contributor.department | Harran Üniversitesi , , | |
dc.identifier.volume | 34 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 89 | |
dc.identifier.endpage | 94 | |
dc.contributor.firstauthorID | 2527554 | |