Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Meryem, Karaca"'
Autor:
Mehmet Cihan Balci, Asuman Gedikbasi, Sukru Anil Dogan, Sevde Kahraman, Suzin Tatoryan, Sebnem Tekin Neijmann, Meryem Karaca, Fatmahan Atalar, Gulden Gokcay
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Cystathionine beta-synthase deficiency (CBSD) is the most prevalent inherited disorder of homocysteine metabolism in the transsulphuration pathway. Research have suggested oxidative stress and inflammation as candidate pathogenic mechanisms
Externí odkaz:
https://doaj.org/article/68c0e16ff6e647bb9b5a5e8c48f3f36e
Autor:
Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 305-312 (2024)
Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical
Externí odkaz:
https://doaj.org/article/ce5fc731aa4b4a558769ab1f902a8afa
Autor:
Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101032- (2024)
Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures,
Externí odkaz:
https://doaj.org/article/9db955c19bb542af9e6fa85dfd9a33c7
Autor:
Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with pathogenic vari
Externí odkaz:
https://doaj.org/article/795cb8b594b04d13b3f30e2a251abb26
Autor:
Halil Kazanasmaz, Meryem Karaca
Publikováno v:
İstanbul Medical Journal, Vol 20, Iss 4, Pp 279-284 (2019)
Introduction:Phenylketonuria is one of the common causes of preventable mental retardation. Therefore, dietary and/or cofactor therapy initiated by early detection of the disease is of great clinical importance. In this study, the specificity and sen
Externí odkaz:
https://doaj.org/article/2dfe3b8be6ce4256b68c6c897d0816de
Autor:
Arzu Selamioğlu, Meryem Karaca, Mehmet Cihan Balcı, Hüseyin Kutay Körbeyli, Aslı Durmuş, Edibe Pembegül Yıldız, Serap Karaman, Gülden Fatma Gökçay
Publikováno v:
Molecular Syndromology. :1-8
Introduction: Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the clinical findings of triosephosphate isomerase (TPI) deficiency, which is an ultra-rare disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fae92dfcc114a11eaaa968705bb1d9a8
https://doi.org/10.1159/000528192
https://doi.org/10.1159/000528192
Autor:
Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodríguez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi Muchart López, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D Stoway, Rafael Artuch, Marjorie Dixon, Lars Mørkrid, Angeles García-Cazorla
Publikováno v:
Brain.
There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ea24ee9aad654a9ff2783e846f89ea0
https://doi.org/10.1093/brain/awad010
https://doi.org/10.1093/brain/awad010
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Maple syrup urine disease (MSUD) is an inborn metabolic disease. The nutritional treatment with restricted intake of branched chain amino acids and prevention of leucine toxicity are crucially important for a favorable outcome. The aim of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6678506dd3f0e78998372d3b08927f
https://doi.org/10.1515/jpem-2022-0230
https://doi.org/10.1515/jpem-2022-0230
Publikováno v:
Journal of the College of Physicians and Surgeons Pakistan. 31:780-785
Objective To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings. Study design Descriptive study. Place and dur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8042bc27ccd4409d864ef7d95f3b9c1
https://doi.org/10.29271/jcpsp.2021.07.780
https://doi.org/10.29271/jcpsp.2021.07.780
Publikováno v:
Klinische Padiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206a93f76691d468e68ae971cc07c8b0
https://pubmed.ncbi.nlm.nih.gov/35231937
https://pubmed.ncbi.nlm.nih.gov/35231937