Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Halil, Saglam"'
Autor:
Sahin Erdol MD, Mehmet Ture MD, Tahsin Yakut PhD, Halil Saglam PhD, Hideo Sasai MD, Elsayed Abdelkreem MD, Hiroki Otsuka MD, Toshiyuki Fukao MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency
Externí odkaz:
https://doaj.org/article/1f6beff17898491787ca450ad33d0315
Publikováno v:
Journal of clinical research in pediatric endocrinology.
Persistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a13b10803f6db6fdd5cb837503d409d
https://pubmed.ncbi.nlm.nih.gov/34477356
https://pubmed.ncbi.nlm.nih.gov/34477356
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEMReferences. 34(11)
Objectives We aimed to compare plasmapheresis and medical apheresis as lipid-lowering therapies in children with familial lipoprotein lipase (LPL) deficiency. Methods The data of 13 patients who were followed up after a diagnosis of LPL deficiency we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece752e7231b211d5fbd245ebae597cb
https://pubmed.ncbi.nlm.nih.gov/34416796
https://pubmed.ncbi.nlm.nih.gov/34416796
Publikováno v:
Güncel Pediatri. 15:42-49
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d38c1b7c20e684469213d158254f5e0f
https://doi.org/10.4274/jcp.2017.0014
https://doi.org/10.4274/jcp.2017.0014
Autor:
aaskelainen J, Erik Schoenmakers, Ilona Zvetkova, Sharone Barone, Ömer Tarım, Christoffer Löf, Liao Xh, Jukka Kero, Nadia Schoenmakers, Hakan Cangul, Eva Goncalves Serra, Eamonn R. Maher, Konrad Patyra, Panudda Srichomkwun, Kristien Boelaert, Halil Saglam, Frankl Fek, Adeline K Nicholas, Samuel Refetoff, ren E, Manoocher Soleimani, Hideyuki Iwayama, Carl A. Anderson, Williams Ed, Timothy Barrett, V. K. K. Chatterjee, Marja Ojaniemi
Publikováno v:
Yearbook of Paediatric Endocrinology.
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9506838af7edba2b7760a75226d41c01
https://doi.org/10.1530/ey.16.3.11
https://doi.org/10.1530/ey.16.3.11
Autor:
Ömer Tarım, Aylin Kılınç Uğurlu, Hüseyin Anıl Korkmaz, Serap Turan, Emine Demet Akbaş, Esra Döğer, Zeynep Atay, Sezer Acar, Mehmet Emre Atabek, Serpil Bas, Ayhan Abaci, Ayça Törel Ergür, Melek Yildiz, Halil Saglam, Oya Ercan, Tulay Guran, Eda Celebi Bitkin, Ulku Gul, Zeynep Şıklar, Merih Berberoğlu, Eda Mengen Uçaktürk, Abdullah Bereket, Edip Unal, Elif Söbü, Firdevs Bas, Servet Yel, Ayşehan Akıncı, Enver Simsek, Erdal Eren, Şükriye Pınar İşgüven
Publikováno v:
JCRPE, Vol 11, Iss 2, Pp 149-156 (2019)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
siklar, zeynep/0000-0003-0921-2694; Eren, Erdal/0000-0002-1684-1053; Turan, Serap/0000-0002-5172-5402; Bas, Firdevs/0000-0001-9689-4464; Ercan, Oya/0000-0001-7397-2837; Bas, Serpil/0000-0001-6210-4807; berberoglu, merih/0000-0003-3102-0242; Torel Erg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d8d801d90b02a447588ec359131aa2b
https://hdl.handle.net/20.500.12712/10818
https://hdl.handle.net/20.500.12712/10818
Publikováno v:
Volume: 14, Issue: 3 116-123
Güncel Pediatri
Güncel Pediatri
Giriş: Diyabetik ketoasidoz DKA insülin eksikliğinin ciddi bir sonucu olup tip 1 diabetes mellituslu DM çocuklarda önemli ölçüde mortalite ve morbiditeye neden olan bir durumdur. DKA olgularının geriye dönük olarak değerlendirilmesi; ted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d338f9312dc1ac0884ba2dc5c7b6ec2
https://doi.org/10.4274/jcp.85698
https://doi.org/10.4274/jcp.85698
Autor:
Sahin Erdol, Halil Saglam
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Objective Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2a9e913c716ee657ef0180d233721f
http://europepmc.org/articles/PMC5096498
http://europepmc.org/articles/PMC5096498
Autor:
Ipek Guney Varal, Onur Bagci, Nilgün Köksal, Hilal Özkan, Pelin Dogan, Cansu Canbolat, Halil Saglam, Erdal Eren
Publikováno v:
Volume: 14, Issue: 1 10-17
Güncel Pediatri
Güncel Pediatri
Giriş: Prematüre bebeklerde tiroid fonksiyon testlerindeki TFT bozukluğun sıklığı, etiyolojisi ve morbiditelerle ilişkisinin belirlenmesi.Gereç ve Yöntem: Bu çalışmaya Ocak 2009 ve Ocak 2012 yılları arasında Uludağ Üniversitesi yeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c58170fdfaccf1f28841d2f1412d29
https://doi.org/10.4274/jcp.73644
https://doi.org/10.4274/jcp.73644
Publikováno v:
Güncel Pediatri. 15:1-5
Giris: Osteogenezis imperfekta OI tekrarlayan kemik kiriklarinin yasam kalitesini bozdugu kalitsal bir hastaliktir. Calismamizin amaci OI tanisi almis hastalarinin retrospektif degerlendirilip, OI’de yeni belirlenebilecek tani ve tedavi protokoller
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb725ab3d67f3432f6775059a2314ce
https://doi.org/10.4274/jcp.26234
https://doi.org/10.4274/jcp.26234