Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Burcu Öztürk Hişmi"'
Autor:
Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 2, Pp 198-201 (2021)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzym
Externí odkaz:
https://doaj.org/article/c49c72c8015242dba0594fd927bce364
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100904- (2022)
Background: Glycogen storage diseases type IIIa and b (GSDIII) are rare inherited metabolic disorders that are caused by deficiencies of the glycogen debranching enzyme, resulting in the accumulation of abnormal glycogen (‘limit dextrin’) in the
Externí odkaz:
https://doaj.org/article/f94e7f634fd84d0eab23165d5d799f9f
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Autor:
Serçin, Güven, İbrahim, Gökçe, Ceren, Alavanda, Burcu, Öztürk Hişmi, Neslihan, Çiçek, Ece, Bodur Demirci, Mehtap, Sak, Nurdan, Yıldız, Pınar, Ata, Harika, Alpay
Publikováno v:
Turkish Archives of Pediatrics. 57:432-440
Objective: We aimed to present the characteristics, genetic analysis results, long-term prognosis of our patients with distal kidney tubular acidosis, and the relationship between hyperammonemia and distal kidney tubular acidosis. Materials and Metho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b993de48c7c0c0f565b748829581f534
https://doi.org/10.5152/turkarchpediatr.2022.21362
https://doi.org/10.5152/turkarchpediatr.2022.21362
Publikováno v:
Pediatric Nephrology. 37:1033-1039
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb734d25f5fdf79c8c62fb0ce281b9d
https://doi.org/10.1007/s00467-021-05363-7
https://doi.org/10.1007/s00467-021-05363-7
Publikováno v:
JCEM Case Reports. 1
Introduction Mucopolysaccharidosis (MPS) IVA (Morquio syndrome) is a rare lysosomal storage disease, that is caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to an autosomal recessive mutation in the GALNS gene. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::435c17153e05baa57edcbab9803703be
https://doi.org/10.1210/jcemcr/luac014.022
https://doi.org/10.1210/jcemcr/luac014.022
Publikováno v:
Pediatric nephrology (Berlin, Germany). 37(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95d77b1722195382e1acc98fc227c96
https://pubmed.ncbi.nlm.nih.gov/34999980
https://pubmed.ncbi.nlm.nih.gov/34999980
Autor:
Duygu Duman, Suna Tokgoz-Yilmaz, Hatice Ozturkmen-Akay, Seda Taşır-Yılmaz, Fazilet Altın, Asli Sirmaci, Hilal Özdağ, E. Berrin Yüksel-Konuk, Ismail Yilmaz, Müzeyyen Yıldırım, Suat Fitoz, Seyra Erbek, Burcu Öztürk-Hişmi, Mustafa Tekin, Abdullah Ayçiçek, Aylin Hasanefendioğlu-Bayrak, İdil Aslan, Filiz Basak Cengiz, Armagan Incesulu, Z. Serap Arıcı
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 73:699-705
Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ee423f7bef9d0fea920aca5731be00
https://doi.org/10.1016/j.ijporl.2009.01.005
https://doi.org/10.1016/j.ijporl.2009.01.005