المؤلفون: Olgac A, Okur İ, Biberoğlu G, Ezgü FS, Tümer L

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 1, Pp 103-106 (2021)

مصطلحات موضوعية: familial chylomicronemia syndrome (fcs), glycogen storage disease type 1a (gsd1a), hypertriglyceridemia (htg), pancreatitis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/520bfc7158984610bff713d9df79e5b1

المؤلفون: Olgac A, Tekin Orgun L, Ezgü FS, Biberoǧlu G, Tümer L

المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 93-96 (2019)

مصطلحات موضوعية: inborn errors of metabolism, l-2-hydroxyglutaric aciduria (l2hga), seizure, tremor, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/f27513f6cfb84b3da5b73d7d92b06d8f

المؤلفون: Ezgü, Fs., Tümer, L., Hasanglu, A., Gündüz, M., Tyras, U., Ünsal, R., Seneca, Sara

المساهمون: Department of Embryology and Genetics

مصطلحات موضوعية: BCS1L gene mutation, mt disorders, sodium bicarbonate, complex III deficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3848::de2176f98fee7d4cc852056366582c58
https://biblio.vub.ac.be/vubir/severe-renal-tubulopathy-and-cholestasis-due-to-bcs1l-gene-mutation-of-complex-iii-experience-with-high-dose-sodium-bicarbonate-therapy(0147d192-68c4-4a92-85ca-65e7e407bbe2).html

المؤلفون: Gücüyener, K, Türktaş*, Serdarog lu, A, Ezgü, Fs

المصدر: Allergy ; volume 54, issue 7, page 767-768 ; ISSN 0105-4538 1398-9995

الاتاحة: http://dx.doi.org/10.1034/j.1398-9995.1999.00178.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1398-9995.1999.00178.x
https://onlinelibrary.wiley.com/doi/pdf/10.1034/j.1398-9995.1999.00178.x
https://onlinelibrary.wiley.com/doi/full-xml/10.1034/j.1398-9995.1999.00178.x