Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Burcu Öztürk, Hişmi"'
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