Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hüseyin Kutay Körbeyli"'
Autor:
Mehmet Cihan Balci, Meryem Karaca, Dilek Gunes, Huseyin Kutay Korbeyli, Arzu Selamioglu, Gulden Gokcay
Publikováno v:
Nutrients, Vol 16, Iss 19, p 3355 (2024)
Background/Objectives: Phenylketonuria is a hereditary metabolic disorder characterized by a deficiency of phenylalanine hydroxylase. The main treatment for PKU is a phenylalanine-restricted diet. The exclusion of protein rich natural foods and inclu
Externí odkaz:
https://doaj.org/article/adc25e59f011407e825979b4e9530e4e
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:
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
Publikováno v:
Volume: 8, Issue: 4 345-349
Çağdaş Tıp Dergisi
Çağdaş Tıp Dergisi
Amac: Cocuk kardiyoloji poliklinigine senkop yakinmasi ile basvuran olgularin tani ve etiyolojiler inin aydinlatilmasi, bu dogrultuda yapilan laboratuvar calismalari, oz-soygecmis anamnezi ve fizik muayene bulgularinin etiyoloji ile iliskisinin incel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4dcbc96cd324ca8dd6f5eec5c248784
https://doi.org/10.16899/gopctd.420597
https://doi.org/10.16899/gopctd.420597