Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Leyla Tumer"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 17, Iss 2, Pp 234-236 (2014)
Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movem
Externí odkaz:
https://doaj.org/article/20e8443434c2414f941881d96909645e
Autor:
Burcu CİVELEK ÜREY, Çiğdem Seher KASAPKARA, Aslı İNCİ, Mehmet GÜNDÜZ, Aslınur ÖZKAYA PARLAKAY, Leyla TUMER, Asburce OLGAC
Publikováno v:
Medical Records. 5:231-6
Aim: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome with a high mortality rate and has been labeled a global pandemic in March 2020. Gaucher Disease (GD) is one of the rare inherited lysosomal storage diseases (LSDs). We a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3f5d4efbc45d1810fcd08a286c3288a
https://doi.org/10.37990/medr.1139421
https://doi.org/10.37990/medr.1139421
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Fabry disease is an X-linked lysosomal disorder caused by decreased or absent alpha galactosidase enzyme. The enzyme deficiency leads to progressive accumulation of globotriaosylceramide (Gb-3) and its deacetylated form lyso-Gb3 in various
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2bdb08372fe822bb86766ebe46f4f6e
https://doi.org/10.1515/jpem-2023-0105
https://doi.org/10.1515/jpem-2023-0105
Autor:
Merve Emecen Sanli, Basak Cengiz, Ayse Kilic, Ekin Ozsaydi, Asli Inci, Ilyas Okur, Leyla Tumer, Elise Lebigot, Fatih Ezgu
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:497-503
Objectives Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0c148f86f976201991a9587e1bb86da
https://doi.org/10.1515/jpem-2021-0732
https://doi.org/10.1515/jpem-2021-0732
Autor:
Özen Taş, Tugba Kontbay, Ozlem Dogan, Engin Kose, Merih Berberoglu, Zeynep Siklar, Leyla Tumer, Fatma Tuba Eminoglu
Background/Aim There have been no studies to date examining the effect of metformin treatment on vitamin B12 status in children and adolescents. In this prospective study, the effects of metformin on blood vitamin B12, serum methylmalonic acid (MMA),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c806efd4e77db7b9eec40b7ea408c3
https://avesis.gazi.edu.tr/publication/details/da0cc501-cd13-46cb-bdda-9d096d911ac0/oai
https://avesis.gazi.edu.tr/publication/details/da0cc501-cd13-46cb-bdda-9d096d911ac0/oai
Autor:
Özen, Taş, Tugba, Kontbay, Ozlem, Dogan, Engin, Kose, Merih, Berberoglu, Zeynep, Siklar, Leyla, Tumer, Fatma Tuba, Eminoglu
Publikováno v:
Klinische Pädiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17df44b8b8da93974e3e3b7bf66ddbc1
https://doi.org/10.1055/a-1766-2824
https://doi.org/10.1055/a-1766-2824
Autor:
Merve, Emecen Sanli, Basak, Cengiz, Ayse, Kilic, Ekin, Ozsaydi, Asli, Inci, Ilyas, Okur, Leyla, Tumer, Elise, Lebigot, Fatih, Ezgu
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(4)
Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded byIn this study, we describe the clinical, biochemical, and molecular genetic features of six unrelated Turkish patients from s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::596a883dc4c6cd0e19354bd38efcf432
https://pubmed.ncbi.nlm.nih.gov/35179010
https://pubmed.ncbi.nlm.nih.gov/35179010
Autor:
Ibrahim Oncel, Mohammadreza Yousefi, Asli Inci, Zumrut Arslan Gulten, Pelin Teke Kisa, Meryem Karaca, Özlem Unal, Mehmet Gunduz, Deniz Kor, Neslihan Onenli Mungan, Nur Arslan, Leyla Tumer, Kivilcim Gucuyener, Atay Vural, Banu Anlar
Publikováno v:
Medical Hypotheses. 160:110781
Metabolites like lipids, amino acids or peptides can affect the immune system. Citrulline is an amino acid that activates several inflammatory pathways. Serum citrulline levels are markedly elevated in hereditary citrullinemia type 1 (CTLN1), and cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b62b632461723cb09dc6b7dc564e63c1
https://doi.org/10.1016/j.mehy.2022.110781
https://doi.org/10.1016/j.mehy.2022.110781
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