Your search returned 20 results.

Results
	1.	Inborn errors of metabolism in the differential diagnosis of fatty liver disease. [electronic resource] by Yıldız, Yılmaz Sivri, Hatice Serap Producer: 20211007 In: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management. [electronic resource] by Yıldız, Yılmaz Sivri, Hatice Serap Producer: 20200130 In: European journal of pediatrics vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder. [electronic resource] by Yıldız, Yılmaz Dursun, Ali Tokatlı, Ayşegül Coşkun, Turgay Sivri, Hatice Serap Producer: 20170626 In: The Turkish journal of pediatrics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs. [electronic resource] by Unal, Ozlem Oztürk-Hişmi, Burcu Coşkun, Turgay Tokatlı, Ayşegül Dursun, Ali Sivri, Hatice Serap Producer: 20130827 In: The Turkish journal of pediatrics vol. 54 Availability: No items available. Save to lists Add to cart (remove)
	5.	Oral health status in patients with mucopolysaccharidoses. [electronic resource] by Ballıkaya, Elif Eymirli, Pınar Serdar Yıldız, Yılmaz Avcu, Nihal Sivri, Hatice Serap Uzamış-Tekçiçek, Meryem Producer: 20190506 In: The Turkish journal of pediatrics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department. [electronic resource] by Yıldız, Yılmaz Akcan Yıldız, Leman Dursun, Ali Tokatlı, Ayşegül Coşkun, Turgay Tekşam, Özlem Sivri, Hatice Serap Producer: 20210323 In: European journal of pediatrics vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. [electronic resource] by Yıldız, Yılmaz Olsen, Rikke Katrine Jentoft Sivri, Hatice Serap Akçören, Zuhal Nygaard, Helle Highland Tokatlı, Ayşegül Producer: 20191025 In: Neuromuscular disorders : NMD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis. [electronic resource] by Bilginer Gurbuz, Berrak Aypar, Ebru Coskun, Turgay Alehan, Dursun Dursun, Ali Tokatli, Aysegül Sivri, Hatice Serap Producer: 20200303 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Oral health status of children with phenylketonuria. [electronic resource] by Ballikaya, Elif Yildiz, Yilmaz Sivri, Hatice Serap Tokatli, Aysegul Dursun, Ali Olmez, Seval Coskun, Turgay Uzamis Tekcicek, Meryem Producer: 20201207 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75]. [electronic resource] by Yıldız, Yılmaz Talim, Beril Haliloglu, Goknur Topaloglu, Haluk Akçören, Zuhal Dursun, Ali Sivri, Hatice Serap Coşkun, Turgay Tokatlı, Ayşegül Publication details: Pediatric neurology 02 2020 In: Pediatric neurology vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency. [electronic resource] by Yıldız, Yılmaz Talim, Beril Haliloglu, Goknur Topaloglu, Haluk Akçören, Zuhal Dursun, Ali Sivri, Hatice Serap Coşkun, Turgay Tokatlı, Ayşegül Producer: 20200729 In: Pediatric neurology vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. [electronic resource] by Atçeken, Nazente Özgül, Rıza Köksal Yücel Yilmaz, Didem Tokatli, Ayşegül Coşkun, Turgay Sivri, Hatice Serap Dursun, Ali Karaca, Mehmet Producer: 20181002 In: Turkish journal of medical sciences vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation. [electronic resource] by Kılıç, Mustafa Özgül, Rıza Köksal Dursun, Ali Tokatlı, Ayşegül Kalkanoğlu-Sivri, Hatice Serap Anlar, Banu Fowler, Brian Coşkun, Turgay Producer: 20140826 In: The Turkish journal of pediatrics vol. 55 Availability: No items available. Save to lists Add to cart (remove)
	14.	Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe. [electronic resource] by Yıldız, Yılmaz Arslan, Mutluay Çelik, Gökalp Kasapkara, Çiğdem Seher Ceylaner, Serdar Dursun, Ali Sivri, Hatice Serap Coşkun, Turgay Tokatlı, Ayşegül Producer: 20210203 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. [electronic resource] by Karaca, Mehmet Hismi, Burcu Ozgul, Riza Koksal Karaca, Sefayet Yilmaz, Didem Yucel Coskun, Turgay Sivri, Hatice Serap Tokatli, Aysegul Dursun, Ali Producer: 20140417 In: Gene vol. 534 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome. [electronic resource] by Kiliç, Mustafa Sivri, Hatice Serap Dursun, Ali Tokatli, Ayşegül De Meirleir, Linda Seneca, Sara Akçören, Zuhal Yiğit, Sule Topaloğlu, Haluk Coşkun, Turgay Producer: 20110614 In: The Turkish journal of pediatrics vol. 53 Availability: No items available. Save to lists Add to cart (remove)
	17.	Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. [electronic resource] by Karaca, Mehmet Özgül, Rıza Köksal Ünal, Özlem Yücel-Yılmaz, Didem Kılıç, Mustafa Hişmi, Burcu Tokatlı, Ayşegül Coşkun, Turgay Dursun, Ali Sivri, Hatice Serap Producer: 20160624 In: European journal of pediatrics vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Hearing loss in biotinidase deficiency: genotype-phenotype correlation. [electronic resource] by Sivri, Hatice Serap Kalkanoğlu Genç, Gülsüm Aydan Tokatli, Ayşegül Tokatlý, Ayşegül Dursun, Ali Coşkun, Turgay Aydin, Halil Ibrahim Aydýn, Halil Ybrahim Sennaroğlu, Levent Belgin, Erol Jensen, Kevin Wolf, Barry Producer: 20070411 In: The Journal of pediatrics vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial. [electronic resource] by Ferla, Rita Claudiani, Pamela Savarese, Marco Kozarsky, Karen Parini, Rossella Scarpa, Maurizio Donati, Maria Alice Sorge, Giovanni Hopwood, John J Parenti, Giancarlo Fecarotta, Simona Nigro, Vincenzo Sivri, Hatice Serap Van Der Ploeg, Ans Andria, Generoso Brunetti-Pierri, Nicola Auricchio, Alberto Producer: 20151215 In: Human gene therapy vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey. [electronic resource] by Kılıç, Mustafa Dursun, Ali Coşkun, Turgay Tokatlı, Ayşegül Özgül, Rıza K Yücel-Yılmaz, Didem Karaca, Mehmet Doğru, Deniz Alehan, Dursun Kadayıfçılar, Sibel Genç, Aydan Turan-Dizdar, Handan Gönüldaş, Burhanettin Savcı, Sema Sağlam, Melda Aksoy, Cemalettin Arslan, Umut Sivri, Hatice-Serap Producer: 20180605 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 20 results.