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Hacettepe University: Ankara, TR

(Pediatric Metabolism)
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YILMAZ YILDIZ

Works (50 of 86)

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Assessing sleep habits in school-aged children with phenylketonuria: a comparative study

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High prevalence of low bone mineral density in young adults with phenylketonuria

Postgraduate Medicine
2025 | Journal article
Contributors: Ciki, Kismet; Kahraman, Ayca Burcu; Akar, Halil Tuna; Yildiz, Yilmaz; Dursun, Ali; Tokatli, Ayseguel; Coskun, Turgay; Sivri, Serap
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A Rare Kidney Involvement of Lysinuric Protein Intolerance: Membranoproliferative Glomerulonephritis

Pediatric Nephrology
2024 | Journal article
Contributors: Baltu, Demet; Serin, Oguzhan; Aksu, Tekin; Gulsen, Hayriye Hizarcioglu; Orhan, Diclehan; Yildiz, Yilmaz; Yilmaz, Didem Yucel; Vuralli, Dogus; Bilginer, Yelda; Gulhan, Bora et al.
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Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

European Journal of Paediatric Neurology
2024 | Journal article
Contributors: Yildiz, Yilmaz; Ardicli, Didem; Gocmen, Rahsan; Yalnizoglu, Dilek; Topcu, Meral; Coskun, Turgay; Tokatli, Aysegul; Haliloglu, Goknur
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Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family

Klinische Pädiatrie
2024 | Journal article
Contributors: Ciki, Kismet; Ozgul, Riza Koksal; Yildiz, Yilmaz
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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

Journal of Inherited Metabolic Disease
2024 | Journal article
Contributors: Aldrian, Denise; Waldner, Birgit; Vogel, Georg F.; El-Gharbawy, Areeg H.; Mckiernan, Patrick; Vockley, Jerard; Landau, Yuval E.; Al Mutairi, Fuad; Stepien, Karolina M.; Kwok, Anne Mei-Kwun et al.
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Impact of the COVID-19 Era on Phenylalanine Levels and Classical Phenylketonuria Patients Follow-Up: A Retrospective Analysis

Turkish Journal of Pediatric Disease
2024 | Journal article
Contributors: Ayca Burcu Kahraman; Yılmaz Yıldız; Neslihan Nisa Geçici; Kısmet Çıkı; İzzet Erdal; Halil Tuna Akar; Ali Dursun; Ayşegül Tokatli; Serap Sivri
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Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

Journal of Inherited Metabolic Disease
2024 | Journal article
Contributors: Yildiz, Yilmaz; Huebschmann, Oya Kuseyri; Karaosmanoglu, Ayca Akgoz; Manti, Filippo; Karaca, Meryem; Schwartz, Ida Vanessa D.; Pons, Roser; Lopez-Laso, Eduardo; Palacios, Natalia Alexandra Julia; Porta, Francesco et al.
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Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study

European Journal of Medical Genetics
2024 | Journal article
Contributors: Kose, Engin; Kasapkara, Cigdem Seher; Inci, Asli; Yildiz, Yilmaz; Kara, Ilknur Surucu; Kahraman, Ayca Burcu; Tumer, Leyla; Dursun, Ali; Eminog, Fatma Tuba
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Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist

Journal of Nephrology
2024 | Journal article
Contributors: Baltu, Demet; Serin, Oguzhan; Aksu, Tekin; Gulsen, Hayriye Hizarcioglu; Orhan, Diclehan; Yildiz, Yilmaz; Yilmaz, Didem Yuecel; Vuralli, Dogus; Bilginer, Yelda; Gulhan, Bora et al.
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Screening for creatine transporter deficiency in autism spectrum disorder: a pilot study

Turkish Journal of Biochemistry
2024 | Journal article
Contributors: Arslan, Mutluay; Yildiz, Yilmaz; Olgac, Asburce; Hekim, Ozlem; Yucel, Cigdem; Sertoglu, Erdim
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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease
2024 | Journal article
Contributors: Julia-Palacios, Natalia Alexandra; Huebschmann, Oya Kuseyri; Olivella, Mireia; Pons, Roser; Horvath, Gabriella; Luecke, Thomas; Fung, Cheuk-Wing; Wong, Suet-Na; Cortes-Saladelafont, Elisenda; Rovira-Remisa, M. Mar et al.
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Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Molecular Genetics and Metabolism
2024 | Journal article
Contributors: Ersak, Ayse Senol; Cak, Halime Tuna; Yildiz, Yilmaz; Cavdar, Merve Kasikci; Tunc, Sila; Ozer, Nagihan; Zeltner, Nina A.; Huemer, Martina; Tokatli, Aysegul; Haliloglu, Goknur
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Heavy Metal and Trace Element Status and Dietary Determinants in Children with Phenylketonuria

Nutrients
2024-10 | Journal article | Author
Contributors: İzzet Erdal; YILMAZ YILDIZ; Siddika Songül YALÇIN; Anıl Yirün; Deniz Arca Çakır; Pınar Erkekoğlu
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Multidisciplinary Digital Publishing Institute
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Evaluation of Exposure to Bisphenol A, Bisphenol F, and Phthalates in Patients with Phenylketonuria and Its Differences According to Dietary Status

Nutrients
2024-09 | Journal article | Author
Contributors: İzzet Erdal; YILMAZ YILDIZ; Siddika Songül YALÇIN; Anıl Yirün; Göksun Demirel; Pınar Erkekoğlu
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Multidisciplinary Digital Publishing Institute

A novel mutation in <i>ATP13A2</i> gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy

Acta Neurologica Belgica
2023 | Journal article
Contributors: Inan, Berin; Azman, Filiz; Aktas, Dilek; Yildiz, Yilmaz; Saygi, Serap
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Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury

CEN Case Reports
2023 | Journal article
Contributors: Akar, Halil Tuna; Yildiz, Yilmaz; Mutluay, Ruya; Tekin, Emel; Tokatli, Aysegul
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Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome

Molecular Syndromology
2023 | Journal article
Contributors: Ensert Cihan, Cansu Kethuda; Akar, Halil Tuna; Yildiz, Yilmaz; Sogukpinar, Merve; Utine, Gulen Eda; Celik, Hasan Tolga
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COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

Molecular Genetics and Metabolism
2023 | Journal article
Contributors: Kahraman, Ayca Burcu; Yildiz, Yilmaz; Ciki, Kismet; Erdal, Izzet; Akar, Halil Tuna; Dursun, Ali; Tokatli, Aysegul; Sivri, Serap
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Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

Molecular Genetics and Metabolism
2023 | Journal article
Contributors: Ciki, Kismet; Yildiz, Yilmaz; Kahraman, Ayca Burcu; Ozgul, R. Koksal; Coskun, Turgay; Dursun, Ali; Tokatli, Aysegul; Sivri, Serap
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Preliminary evaluation of potential urinary organic acid biomarkers with mass spectrometry in children with autism spectrum disorder

Research in Autism Spectrum Disorders
2023 | Journal article
Contributors: Sertoglu, Erdim; Balik, Ahmet Rifat; Duman, Umut Goktan; Mavis, Murat Emrah; Arslan, Mutluay; Yildiz, Yilmaz; Batu, Janserey; Olgac, Asburce; Hekim, Ozlem
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Riboflavin responsive glutaric aciduria type II: diagnostic pearls and challenges

Neuromuscular Disorders
2023 | Journal article
Contributors: Erdal, I.; Yildiz, Y.; Bastemur, M.; Tokatli, A.; Haliloglu, G.
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Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Endocrine, Metabolic & Immune Disorders-Drug Targets
2023 | Journal article
Contributors: Erdal, Izzet; Yildiz, Yilmaz; Onal, Gizem; Aktepe, Oktay Halit; Duzgun, Selin Ardali; Saglam, Arzu; Emre, Serap Dokmeci; Sivri, Hatice Serap
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Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

Neuromuscular Disorders
2023 | Journal article
Contributors: Kahraman, Ayca Burcu; Yildiz, Yilmaz; Gokmen-Ozel, Hulya; Kadayifcilar, Sibel; Sivri, Serap
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A Child with Developmental Regression and Electroencephalographic Abnormalities

Clinical Chemistry
2022 | Journal article
Contributors: Ciki, Kismet; Yildiz, Yilmaz; Lafci, Naz Guleray; Lay, Incilay; Anlar, Banu
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Ağır Biyotinidaz Eksikliği Olgusunda Yeni Çift Homozigot BTD Gen Mutasyonu

Turkish Journal of Pediatric Disease
2022 | Journal article
Contributors: Kübra DEVECİ; Halil Tuna AKAR; Yılmaz YILDIZ; R. Köksal ÖZGÜL
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Human Mutation
2022 | Journal article
EID:

2-s2.0-85122725382

Part of ISSN: 10981004 10597794
Contributors: Scala, M.; Wortmann, S.B.; Kaya, N.; Stellingwerff, M.D.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D. et al.
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YILMAZ YILDIZ via Scopus - Elsevier
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Comment on the "NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure"

Journal of Pediatric Gastroenterology and Nutrition
2022 | Journal article
Contributors: Yildiz, Yilmaz; Tokatli, Aysegul
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Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

JCRPE Journal of Clinical Research in Pediatric Endocrinology
2022 | Journal article
Contributors: Vuralli, Dogus; Yildiz, Yilmaz; Ozon, Alev; Dursun, Ali; Goenc, Nazli; Tokatli, Aysegul; Sivri, H. Serap; Alikasifoglu, Ayfer
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Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

Diagnostic and Interventional Radiology
2022 | Journal article
Contributors: Yavuz, Ozlem Ozkale; Ayaz, Ercan; Yildiz, Yilmaz; Karaosmanoglu, Ayca Akgoz; Bulut, Elif; Sivri, H. Serap Kalkanoglu; Oguz, Kader K.
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Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI

NEJM Evidence
2022 | Journal article
Contributors: Brunetti-Pierri, Nicola; Ferla, Rita; Ginocchio, Virginia Maria; Rossi, Alessandro; Fecarotta, Simona; Romano, Roberta; Parenti, Giancarlo; Yildiz, Yilmaz; Zancan, Stefano; Pecorella, Valentina et al.
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Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

Molecular Syndromology
2022 | Journal article
Contributors: Kahraman, Ayca Burcu; Akar, Halil Tuna; Lafci, Naz Guleray; Yildiz, Yilmaz; Tokatli, Ayseguel
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Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Balkan Medical Journal
2022 | Journal article
Contributors: Akar, Halil Tuna; Yildiz, Yilmaz; Guvenkaya, Gokhan; Ciki, Kismet; Kahraman, Ayca Burcu; Erdal, Izzet; Coskun, Turgay; Dursun, Ali; Sivri, Hatice Serap; Tokatli, Aysegul
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Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

Neuromuscular Disorders
2022 | Journal article
Contributors: Kahraman, Ayca Burcu; Karakaya, Bekir; Yildiz, Yilmaz; Kamaci, Saygin; Kesici, Selman; Simsek-Kiper, Pelin Ozlem; Kurt-Sukur, Eda Didem; Bayrakci, Benan; Haliloglu, Goknur
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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Life
2022-10 | Journal article | Author
Contributors: Berna Seker Yilmaz; Julien Baruteau; nur arslan; Halil Ibrahim Aydin; Magalie Barth; Ayse Ergul Bozaci; Anais Brassier; Ebru Canda; Aline Cano; Efstathia Chronopoulou et al.
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Multidisciplinary Digital Publishing Institute

Clinical Heterogeneity in <i>MT-ATP6</i> Pathogenic Variants: Same Genotype&mdash;Different Onset

Cells
2022-01 | Journal article | Author
Contributors: Sara Capiau; Joél Smet; Boel De Paepe; YILMAZ YILDIZ; MUTLUAY ARSLAN; Olivier Stevens; Maxime Verschoore; Hedwig Stepman; Sara Seneca; Arnaud Vanlander
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Multidisciplinary Digital Publishing Institute
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A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

JCRPE Journal of Clinical Research in Pediatric Endocrinology
2021 | Journal article
EID:

2-s2.0-85122224914

Part of ISSN: 13085735 13085727
Contributors: Mısırlıgil, M.; Yıldız, Y.; Akın, O.; Güneş, S.O.; Arslan, M.; Ünay, B.
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YILMAZ YILDIZ via Scopus - Elsevier
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Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Journal of Inherited Metabolic Disease
2021 | Journal article
EID:

2-s2.0-85111968071

Part of ISSN: 15732665 01418955
Contributors: Keller, M.; Brennenstuhl, H.; Kuseyri Hübschmann, O.; Manti, F.; Julia Palacios, N.A.; Friedman, J.; Yıldız, Y.; Koht, J.A.; Wong, S.-N.; Zafeiriou, D.I. et al.
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YILMAZ YILDIZ via Scopus - Elsevier
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Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

European Journal of Medical Genetics
2021 | Journal article
EID:

2-s2.0-85114663964

Part of ISSN: 18780849 17697212
Contributors: Dursun, A.; Yalnizoglu, D.; Yilmaz, D.Y.; Oguz, K.K.; Gülbakan, B.; Koşukcu, C.; Akar, H.T.; Kahraman, A.B.; Acar, N.V.; Günbey, C. et al.
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YILMAZ YILDIZ via Scopus - Elsevier
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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Journal of Inherited Metabolic Disease
2021 | Journal article
EID:

2-s2.0-85099973499

Part of ISSN: 15732665 01418955
Contributors: Kuseyri Hübschmann, O.; Mohr, A.; Friedman, J.; Manti, F.; Horvath, G.; Cortès-Saladelafont, E.; Mercimek-Andrews, S.; Yildiz, Y.; Pons, R.; Kulhánek, J. et al.
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YILMAZ YILDIZ via Scopus - Elsevier
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Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

Neuromuscular Disorders
2021 | Journal article
EID:

2-s2.0-85105265543

Part of ISSN: 18732364 09608966
Contributors: Akar, H.T.; Çağan, M.; Yıldız, Y.; Sivri, H.S.
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YILMAZ YILDIZ via Scopus - Elsevier
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Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant (Metabolic Brain Disease, (2021), 36, 6, (1405-1410), 10.1007/s11011-021-00753-0)

Metabolic Brain Disease
2021 | Journal article
EID:

2-s2.0-85107471231

Part of ISSN: 15737365 08857490
Contributors: Çıkı, K.; Yıldız, Y.; Yücel Yılmaz, D.; Pektaş, E.; Tokatlı, A.; Özgül, R.K.; Sivri, H.S.; Dursun, A.
Source: Self-asserted source
YILMAZ YILDIZ via Scopus - Elsevier

Covid-19-related anxiety in phenylketonuria patients

Turkish Journal of Pediatrics
2021 | Journal article
EID:

2-s2.0-85119914425

Part of ISSN: 00414301
Contributors: Akar, H.T.; Karaboncuk, Y.; Çıkı, K.; Kahraman, A.B.; Erdal, İ.; Coşkun, T.; Tokatlı, A.; Dursun, A.; Yıldız, Y.; Sivri, H.S.
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YILMAZ YILDIZ via Scopus - Elsevier
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Difficulties associated with enzyme replacement therapy for mucopolysaccharidoses

Turkish Archives of Pediatrics
2021 | Journal article
EID:

2-s2.0-85121614605

Part of ISSN: 27576256
Contributors: Yıldız, Y.; Sivri, H.S.
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YILMAZ YILDIZ via Scopus - Elsevier
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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic Brain Disease
2021 | Journal article
EID:

2-s2.0-85106326129

Part of ISSN: 15737365 08857490
Contributors: Çıkı, K.; Yıldız, Y.; Yücel Yılmaz, D.; Pektaş, E.; Tokatlı, A.; Özgül, R.K.; Sivri, H.S.; Dursun, A.
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YILMAZ YILDIZ via Scopus - Elsevier
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Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Metabolic Brain Disease
2021 | Journal article
EID:

2-s2.0-85103930641

Part of ISSN: 15737365 08857490
Contributors: Bayrak, H.; Yıldız, Y.; Olgaç, A.; Kasapkara, Ç.S.; Küçükcongar, A.; Zenciroğlu, A.; Yüksel, D.; Ceylaner, S.; Kılıç, M.
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YILMAZ YILDIZ via Scopus - Elsevier
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Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings

Clinical Genetics
2021 | Journal article
EID:

2-s2.0-85107132175

Part of ISSN: 13990004 00099163
Contributors: Yıldız, Y.; Koşukcu, C.; Aygün, D.; Akçaboy, M.; Öztek Çelebi, F.Z.; Taşcı Yıldız, Y.; Şahin, G.; Aytekin, C.; Yüksel, D.; Lay, İ. et al.
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YILMAZ YILDIZ via Scopus - Elsevier
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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Nature Communications
2021 | Journal article
EID:

2-s2.0-85115881692

Part of ISSN: 20411723
Contributors: Kuseyri Hübschmann, O.; Horvath, G.; Cortès-Saladelafont, E.; Yıldız, Y.; Mastrangelo, M.; Pons, R.; Friedman, J.; Mercimek-Andrews, S.; Wong, S.-N.; Pearson, T.S. et al.
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YILMAZ YILDIZ via Scopus - Elsevier
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Invisible burden of COVID-19: Enzyme replacement therapy disruptions

Journal of Pediatric Endocrinology and Metabolism
2021 | Journal article
EID:

2-s2.0-85104382595

Part of ISSN: 21910251 0334018X
Contributors: Kahraman, A.B.; Yildiz, Y.; Çiki, K.; Akar, H.T.; Erdal, I.; Dursun, A.; Tokatli, A.; Sivri, H.S.
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YILMAZ YILDIZ via Scopus - Elsevier
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Oral health status of children and young adults with maple syrup urine disease in Turkey

BMC Oral Health
2021 | Journal article
EID:

2-s2.0-85098765125

Part of ISSN: 14726831
Contributors: Ballikaya, E.; Yildiz, Y.; Koç, N.; Tokatli, A.; Uzamis Tekcicek, M.; Sivri, H.S.
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Page 1 of 2

Peer review (73 reviews for 25 publications/grants)

Review activity for Annals of Indian Academy of Neurology. (1)
Review activity for BMC medical education (1)
Review activity for Clinical case reports. (1)
Review activity for European journal of medical genetics. (2)
Review activity for European journal of medical genetics. (2)
Review activity for European journal of neurology (1)
Review activity for European journal of pediatrics. (1)
Review activity for Expert opinion on drug discovery (1)
Review activity for Human gene. (2)
Review activity for Human molecular genetics. (1)
Review activity for Jornal de Pediatria. (1)
Review activity for Journal of integrative neuroscience. (1)
Review activity for Journal of pediatric endocrinology and metabolism. (10)
Review activity for Meandros medical and dental journal. (1)
Review activity for Medicine. (1)
Review activity for Molecular genetics & genomic medicine. (1)
Review activity for Neuropediatrics (1)
Review activity for Nöropsikiyatri arşivi. (1)
Review activity for Pediatrics / (3)
Review activity for PloS one. (1)
Review activity for SAGE open medical case reports. (1)
Review activity for The turkish journal of pediatrics. (18)
Review activity for Trends in pediatrics. (3)
Review activity for Turkish archives of pediatrics. (16)
Review activity for Zeitschrift für Geburtshilfe und Neonatologie. (1)