Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa von Olgac, Asburce, İnci, Aslı, Okur, İlyas, Biberoğlu, Gürsel, Oğuz, Deniz, Ezgü, Fatih Süheyl, Kasapkara, Çiğdem Seher, Aktaş, Emine, Tümer, Leyla

Volltext

Autism: Screening of inborn errors of metabolism and unexpected results von İnci, Aslı, Özaslan, Ahmet, Okur, İlyas, Biberoğlu, Gürsel, Güney, Esra, Ezgü, Fatih Süheyl, Tümer, Leyla, İşeri, Elvan

Volltext

The effect of hypothyroidism, hyperthyroidism, and their treatment on parameters of oxidative stress and antioxidant status von Erdamar, Hüsamettin, Demirci, Hüseyin, Yaman, Halil, Erbil, M. Kemal, Yakar, Tolga, Sancak, Banu, Elbeg, Sehri, Biberoğlu, Gürsel, Yetkin, İlhan

Volltext

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series von Ä°nci, Asli, Okur, Ä°lyas, Tümer, Leyla, BiberoÄlu, Gürsel, üktem, Murat, Ezgü, Fatih

Volltext

The Relationship between Inflammation and Serum Estrogen, Testosterone, and Dhea-S Levels in Obstructive Coronary Artery Disease von Karaaslan, Özge Çakmak, Ünlü, Serkan, Topal, Salih, Biberoğlu, Gürsel, Biberoğlu, Kutay, Çengel, Atiye

Volltext

Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia von Öktem, Rıdvan Murat, İnci, Aslı, Bayrak, Harun, Demir, Fevzi, Biberoğlu, Gürsel, Maviş, Murat Emrah, Gürsu, Gökçe Göksu, Yılmaz, Hazal, Okur, İlyas, Ezgü, Fatih Suheyl, Tümer, Leyla

Volltext

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase von Kılıç, Mustafa, Kasapkara, Çiğdem Seher, Kılavuz, Sebile, Mungan, Neslihan Önenli, Biberoğlu, Gürsel

Volltext

Lysinuric protein intolerance: an overlooked diagnosis von Olgac, Asburce, Yenicesu, Idil, Ozgul, Riza Köksal, Biberoglu, Gürsel, Tümer, Leyla

Volltext

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features von İnci, Aslı, Cengiz, Başak, Biberoğlu, Gürsel, Okur, İlyas, Arhan, Ebru, Öner, Ali Yusuf, Kasapkara, Çiğdem Seher, Küçükçongar, Aynur, Tümer, Leyla, Ezgu, Fatih

Volltext

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians? von İnci, Aslı, Ergin, Filiz Başak Cengiz, Yüce, Burcu Topcu, Çiftçi, Bahattin, Demir, Ercan, Buyan, Necla, Okur, İlyas, Biberoğlu, Gürsel, Öktem, Rıdvan Murat, Tümer, Leyla, Ezgü, Fatih Süheyl

Volltext

The Relationship between Inflammation and Serum Estrogen, Testosterone, and DHEA-S Levels in Obstructive Coronary Artery Disease von Çakmak Karaaslan,Özge, Ünlü,Serkan, Topal,Salih, Biberoğlu,Gürsel, Biberoğlu,Kutay, Çengel,Atiye

Volltext

The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis von İnci, Aslı, Aktaş, Emine, Cengiz Ergin, Filiz Başak, Okur, İlyas, Biberoğlu, Gürsel, Ezgü, Fatih Süheyl, Tümer, Leyla

Volltext

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency von Olgac, Asburce, Kasapkara, Çiğdem S, Kilic, Mustafa, Emine Derinkuyu, Betul, Azapagasi, Ebru, Kesici, Selman, Biberoğlu, Gürsel, Ozyazici, Ahmet, Karaca, Meryem, Haberle, Johannes

Volltext

Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease? von Kızıltunç, Emrullah, Gökalp, Sabire, Biberoğlu, Gürsel, Yalçın, Yakup, Cihan, Burcu, Öktem, Rıdvan M, İnci, Aslı, Tümer, Leyla, Yalçın, Mehmet R, Abacı, Adnan

Volltext

Serum leptin, oxidized low density lipoprotein and plasma asymmetric dimethylarginine levels and their relationship with dyslipidaemia in adolescent girls with polycystic ovary syn... von Demirel, Fatma, Bideci, Aysun, Cinaz, Peyami, Çamurdan, M. Orhun, Biberoğlu, Gürsel, Yesilkaya, Ediz, Hasanoğlu, Alev

Volltext

Vitamin A status and factors associated in healthy school-age children von Vuralli, Dogus, Tumer, Leyla, Hasanoglu, Alev, Biberoglu, Gürsel, Pasaoglu, Hatice

Volltext

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease von Koca, Serhat, Tümer, Leyla, Okur, İlyas, Erten, Yasemin, Bakkaloğlu, Sevcan, Biberoğlu, Gürsel, Kasapkara, Çiğdem, Küçükçongar, Aynur, Dalgıç, Buket, Oktar, Suna Özhan, Öner, Yusuf, Atalay, Tuba, Cemri, Mustafa, Çiftçi, Bahattin, Topçu, Burcu, Hasanoğlu, Alev, Ezgü, Fatih

Volltext

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy von Kasapkara, Çiğdem Seher, Civelek Ürey, Burcu, Bilginer Gürbüz, Berrak, Küçükçongar Yavaş, Aynur, Keçeli, Avni Merter, Öncül, Ümmühan, Gündüz, Mehmet, Biberoğlu, Gürsel, Çıtak Kurt, Ayşegül Neşe, Gürkaş, Esra, Kılıç, Esra, Güleç Ceylan, Gülay, Özbek, Namık Yaşar

Volltext

Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia von İnci, Aslı, Arslan, Burak, Okur, İlyas, Biberoğlu, Gürsel, Şanlı, Merve Emecan, Aktaşoğlu, Ekin, Kılıç, Ayşe, Tümer, Leyla, Ezgü, Fatih Süheyl

Volltext

Assessment of atherosclerosis risk due to the homocysteine–asymmetric dimethylarginine–nitric oxide cascade in children taking antiepileptic drugs von Emeksiz, Hamdi Cihan, Serdaroglu, Ayse, Biberoglu, Gürsel, Gulbahar, Ozlem, Arhan, Ebru, Cansu, Ali, Arga, Mustafa, Hasanoglu, Alev

Volltext