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Yilmaz Yildiz
Yilmaz Yildiz
在 hacettepe.edu.tr 的电子邮件经过验证
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引用次数
引用次数
年份
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ...
Orphanet Journal of Rare Diseases 15, 1-30, 2020
1132020
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
O Kuseyri Hübschmann, G Horvath, E Cortès-Saladelafont, Y Yıldız, ...
Nature Communications 12 (1), 1-15, 2021
342021
Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment
Y Yildiz, E Pektas, A Tokatli, G Haliloglu
Neuropediatrics 48 (01), 049-052, 2017
262017
Inborn errors of metabolism in the differential diagnosis of fatty liver disease
Y Yıldız, HS Sivri
Turkish Journal of Gastroenterology 31 (1), 3-16, 2020
252020
Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation
C Özdemir, U Akpulat, P Sharafi, Y Yıldız, İ Onbaşılar, Ç Kocaefe
Gene 553 (2), 130-139, 2014
242014
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
Y Yıldız, B Talim, G Haliloglu, H Topaloglu, Z Akçören, A Dursun, HS Sivri, ...
Pediatric neurology 99, 69-75, 2019
232019
Oral health status in patients with mucopolysaccharidoses
E Ballıkaya, PS Eymirli, Y Yıldız, N Avcu, HS Sivri, M Uzamış-Tekçiçek
Turk J Pediatr 60, 400-406, 2018
222018
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management
Y Yıldız, HS Sivri
European journal of pediatrics 178 (7), 1005-1011, 2019
192019
Invisible burden of COVID-19: enzyme replacement therapy disruptions
AB Kahraman, Y Yıldız, K Çıkı, HT Akar, İ Erdal, A Dursun, A Tokatlı, ...
Journal of Pediatric Endocrinology and Metabolism, 2021
182021
Cognitive and behavioral impairment in mild hyperphenylalaninemia
SG Evinç, E Pektaş, D Foto-Özdemir, Y Yıldız, Y Karaboncuk, ...
The Turkish Journal of Pediatrics 60 (6), 2018
162018
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
Y Yıldız, M Arslan, G Çelik, ÇS Kasapkara, S Ceylaner, A Dursun, HS Sivri, ...
American Journal of Medical Genetics Part A 182 (4), 705-712, 2020
152020
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy
Y Yıldız, RKJ Olsen, HS Sivri, Z Akçören, HH Nygaard, A Tokatlı
Neuromuscular Disorders 28 (9), 787-790, 2018
152018
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
O Kuseyri Hübschmann, A Mohr, J Friedman, F Manti, G Horvath, ...
Journal of Inherited Metabolic Disease, 2021
142021
Oral health status of children with phenylketonuria
E Ballıkaya, Y Yıldız, HS Sivri, A Tokatlı, A Dursun, S Ölmez, T Coşkun, ...
Journal of Pediatric Endocrinology and Metabolism, 2020
142020
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings
Y Yıldız, C Koşukçu, D Aygün, M Akçaboy, FZ Öztek Çelebi, Y Taşcı Yıldız, ...
Clinical Genetics, 2021
132021
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
Y Yıldız, A Dursun, A Tokatlı, T Coşkun, HS Sivri
Turk J Pediatr 58 (1), 94-96, 2016
132016
Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
N Brunetti-Pierri, R Ferla, VM Ginocchio, A Rossi, S Fecarotta, R Romano, ...
NEJM Evidence, EVIDoa2200052, 2022
112022
Localized acute generalized exanthematous pustulosis with amoxicillin and clavulanic acid
A Özkaya-Parakay, D Azkur, A Kara, Y Yildiz, D Orhan, AB Cengiz, ...
The Turkish journal of pediatrics 53 (2), 229, 2011
112011
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
B Seker Yilmaz, J Baruteau, N Arslan, HI Aydin, M Barth, AE Bozaci, ...
Life 12 (11), 1721, 2022
92022
Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
D Vuralli, Y Yildiz, A Ozon, A Dursun, N Gonc, A Tokatli, HS Sivri, ...
Journal of Clinical Research in Pediatric Endocrinology, 2022
92022
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