Výsledky vyhledávání

Gaucher Hastalığı olan Olgularda SARS-CoV-2 enfeksiyonu

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

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Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy

Autor: Merve Emecen Sanli, Ayse Kilic, Asli Inci, Ilyas Okur, Fatih Ezgu, Leyla Tumer

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

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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

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

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Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?

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

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Akademický článek

Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Autor: Kivilcim Gucuyener, Cigdem Seher Kasapkara, Leyla Tumer, Marcel M. Verbeek

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

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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in

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

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Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

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

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