Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Halil Tuna Akar"'
Autor:
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resul
Externí odkaz:
https://doaj.org/article/c5913431b1984bf8991c2dde0b273b8a
Autor:
Ezgi Demirel Özbek, Jale Nezerli, Halil Tuna Akar, Didem Yücel Yılmaz, Ali Dursun, Rahşan Göçmen, Neşe Dericioğlu
Publikováno v:
Archives of Epilepsy, Vol 30, Iss 2, Pp 53-55 (2024)
L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive metabolic disorder that causes central nervous system dysfunction. We present the case of a 33-year-old woman with macrocephaly, developmental delay, cerebellar ataxia, pyramidal sign
Externí odkaz:
https://doaj.org/article/9363fa307ecd41e68c39d1fa2639395c
Autor:
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/894d3338725548468bbe91094e3b82b7
Autor:
Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı
Publikováno v:
Balkan Medical Journal, Vol 39, Iss 5, Pp 345-350 (2022)
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic fa
Externí odkaz:
https://doaj.org/article/5e0ef359b03e483e9e005be2d4c153d5
Autor:
Luz Jubierre Zapater, Elias Rodriguez-Fos, Merce Planas-Felix, Sara Lewis, Daniel Cameron, Phillip Demarest, Anika Nabila, Junfei Zhao, Paul Bergin, Casie Reed, Makiko Yamada, Alex Pagnozzi, Caroline Nava, Emilie Bourel-Ponchel, Derek E. Neilson, Ali Dursun, R. Köksal Özgül, Halil Tuna Akar, Nicholas D. Socci, Matthew Hayes, Raul Rabadan, David Torrents, Michael C. Kruer, Miklos Toth, Alex Kentsis
Publikováno v:
bioRxiv
DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vertebrate DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ba22cd5c3cd079c9b6a265c1e9a981
https://doi.org/10.1101/2023.04.28.538770
https://doi.org/10.1101/2023.04.28.538770
Publikováno v:
Mol Syndromol
Tyrosinemia type III is an extremely rare autosomal recessive disease, with only 19 patients yet reported. It is caused by a deficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme, resulting from biallelic mutations in the HPD gene. Although th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feb0625f841009cb013d635ac21f5e76
https://doi.org/10.1159/000519256
https://doi.org/10.1159/000519256
Autor:
Ayca Burcu Kahraman, Yılmaz Yıldız, Kısmet Çıkı, Izzet Erdal, Halil Tuna Akar, Ali Dursun, Ayşegül Tokatlı, Serap Sivri
Publikováno v:
Molecular Genetics and Metabolism. 139:107607
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::385d6e974a8bbd2579295ab2da97d89f
https://doi.org/10.1016/j.ymgme.2023.107607
https://doi.org/10.1016/j.ymgme.2023.107607
Autor:
Deniz Cagdas, Halil Tuna Akar, Karin van Leeuwen, Cagman Tan, Ilhan Tezcan, Yavuz Köker, Saliha Esenboga, Dirk Roos, Begum Ozbek, Sevil Oskay Halacli, Martin de Boer
Publikováno v:
Journal of clinical immunology, 41(5), 992-1003. Springer New York
Background: Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b2c36446478e79601414e6fbc8b073
https://doi.org/10.1007/s10875-021-01002-w
https://doi.org/10.1007/s10875-021-01002-w
Publikováno v:
Neuromuscular Disorders. 31:566-569
Very long-chain acyl-coenzyme A (CoA) dehydrogenase (VLCAD) deficiency is an autosomal recessive fatty acid oxidation disorder characterized by rhabdomyolysis, hypoglycemia and cardiomyopathy. The general treatment approach in adult patients is based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03369520b733297e63f2441e3c86ae3a
https://doi.org/10.1016/j.nmd.2021.03.015
https://doi.org/10.1016/j.nmd.2021.03.015
Autor:
Yilmaz Yildiz, Hatice Serap Sivri, Ayça Burcu Kahraman, Ayşegül Tokatlı, Ali Dursun, İzzet Erdal, Halil Tuna Akar, Kısmet Çıkı
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:539-545
Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22b7a1245eb644c4bba199de77e5f49
https://doi.org/10.1515/jpem-2021-0067
https://doi.org/10.1515/jpem-2021-0067