Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Leyla Tümer"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 childre
Externí odkaz:
https://doaj.org/article/deefca80a49349b4bca54098dd4f3cb8
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 3, Pp 257-261 (2021)
Aim:Gaucher disease (GD) is the most prevalent hereditary lysosomal storage disorder, affecting multiple organ systems. It is characterized by a deficiency of the enzyme glucocerebrosidase leading to an accumulation of glucosylceramide in lysosomes.
Externí odkaz:
https://doaj.org/article/62a767aab9d44f5ea4d83bbdaa6db434
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract Background Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane of the lung, small in
Externí odkaz:
https://doaj.org/article/b4527c5402cd42c4b668f8e05aa875f9
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 47-50 (2018)
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marri
Externí odkaz:
https://doaj.org/article/7d26e2b97e644e8b87cb9f630e1004d2
Autor:
Aynur Küçükçongar Yavaş, Tuba Fatma Eminoğlu, İlyas Okur, Arzu Aral, Alev Hasanoğlu, Leyla Tümer
Publikováno v:
Journal of Pediatric Research, Vol 4, Iss 1, Pp 1-5 (2017)
Aim: Coronary heart disease is one of the most common causes of death around the world. The pathological process of coronary heart disease like atherosclerosis starts in childhood. During this period thrombosis constitutes a high-risk factor. In this
Externí odkaz:
https://doaj.org/article/a0e189ef4f5f4b50acef6118bde6abd2
Autor:
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, Fatih Ezgü, Eleonora Lamantea, Massimo Zeviani
Publikováno v:
Turkish Journal of Hematology, Vol 34, Iss 4, Pp 376-377 (2017)
Externí odkaz:
https://doaj.org/article/d9d48e7e8e734a2c8e04e16cdaebad6e
Autor:
Çağil Gökdoğan, Senay Altinyay, Ozan Gökdoğan, Hakan Tutar, Bülent Gündüz, Ilyas Okur, Leyla Tümer, Yusuf Kemal Kemaloğlu
Publikováno v:
Brazilian Journal of Otorhinolaryngology, Vol 82, Iss 3, Pp 281-284
ABSTRACT INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,0
Externí odkaz:
https://doaj.org/article/f4d683b07f98477ca07b93de6b355a76
Autor:
Aslı İNCİ, Filiz Başak CENGİZ ERGİN, İlyas OKUR, Gürsel BİBEROĞLU, Leyla TÜMER, Fatih Süheyl EZGÜ
Publikováno v:
Volume: 23, Issue: 3 322-325
Kocatepe Tıp Dergisi
Kocatepe Tıp Dergisi
OBJECTIVE: Metabolic syndrome is an increasingly common disorder, characterized by obesity, high low-density cholesterol level (LDL), triglyceride level (TG), and insulin sensitivity. It is known that both genetic and environmental factors play a rol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2466764732881c6d804d0d35bbc50de6
https://doi.org/10.18229/kocatepetip.928450
https://doi.org/10.18229/kocatepetip.928450
Autor:
Aslı İnci, Gonca Kılıç Yıldırım, Filiz Başak Cengiz Ergin, Sinan Sarı, Ödül Eğritaş Gürkan, İlyas Okur, Gürsel Biberoğlu, Ayşegül Bükülmez, Fatih Süheyl Ezgü, Buket Dalgıç, Leyla Tümer
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:451-462
Objectives To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis. Methods The data from the electronic hospital records of 25 patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa2388813005e884289e78f9aaefb2a
https://doi.org/10.1515/jpem-2021-0278
https://doi.org/10.1515/jpem-2021-0278
Autor:
Çisem Yıldız, Deniz Gezgin Yıldırım, Asli Inci, Leyla Tümer, Filiz Basak Cengiz Ergin, Emine Nur Sunar Sunar Yayla, Pelin Esmeray Şenol, Nihal Karaçayır, Ödül Eğritaş Gürkan, Ilyas Okur, Fatih S. Ezgü, Sevcan A. Bakkaloğlu
© 2022Background: Mevalonate kinase (MVK) plays a role in cholesterol and non-sterol isoprenoid biosynthesis and its deficiency-related diseases are caused by bi-allelic pathogenic mutations in the MVK gene, (MVK), which leads to rare hereditary aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de151649ca0c605e9d9723df4c65406
https://avesis.gazi.edu.tr/publication/details/2ecba8fa-27bd-4777-baa6-0b06ee25f697/oai
https://avesis.gazi.edu.tr/publication/details/2ecba8fa-27bd-4777-baa6-0b06ee25f697/oai
