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B. Yilmaz · SciRah

Researcher profile · Semantic Scholar

B. Yilmaz

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B. Yilmaz — researcher profile on SciRah

h-index: 7
Works: 29
Citations: 158

Most-cited papers

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys
J. Baruteau, S. Cunningham, B. Yilmaz, D. Perocheau +7 more
2021Molecular Therapy: Methods & Clinical Development33 citations Open access
Semantic Scholar
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency
M. Ibrahim, Jessica I. Gold, A. Woodall, B. Yilmaz +2 more
2023Children22 citations Open access
Semantic Scholar
Gene Therapy for Inherited Metabolic Diseases
B. Yilmaz, Sonam Gurung, D. Perocheau, J. Counsell +1 more
2020Journal of mother and child20 citations
Semantic Scholar
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.
B. Yilmaz, N. Mungan, E. Di Leo, L. Magnolo +5 more
2016Clinica chimica acta; international journal of clinical chemistry13 citations Open access
Semantic Scholar
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
D. KÖr, B. Yilmaz, F. Bulut, S. Ceylaner +1 more
2017Journal of Pediatric Endocrinology & Metabolism (JPEM)12 citations Open access
Semantic Scholar
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
D. KÖr, N. Mungan, B. Yilmaz, Murat Öktem
2015Journal of Pediatric Endocrinology & Metabolism (JPEM)10 citations
Semantic Scholar
Symptomatic and asymptomatic candidiasis in a pediatric intensive care unit
A. Arslankoylu, N. Kuyucu, B. Yilmaz, S. Erdoğan
2011Italian Journal of Pediatrics10 citations Open access
Semantic Scholar
Two Novel Mutations in the AGK Gene: Two Case Reports with Sengers Syndrome
B. Yilmaz, G. Ceylaner, S. Sızmaz, F. Demir +1 more
20167 citations
Semantic Scholar
Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up
B. Yilmaz, D. Kor, N. Mungan, Sevcan Erdem +1 more
2015Journal of Pediatric Endocrinology & Metabolism (JPEM)7 citations
Semantic Scholar
Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.
B. Yilmaz, S. Ceylaner, N. Mungan
2021Turkish Journal of Pediatrics6 citations Open access
Semantic Scholar
An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency
E. Melek, F. Bulut, B. Atmış, B. Yilmaz +2 more
2017Journal of Pediatric Endocrinology & Metabolism (JPEM)3 citations
Semantic Scholar
A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI.
D. KÖr, B. Yilmaz, F. Bulut, N. Mungan +1 more
2016Journal of investigational allergology & clinical immunology3 citations
Semantic Scholar
A 17-year-old girl with chronic intermittent abdominal pain. Acute intermittent porphyria.
N. Mungan, B. Yilmaz, Süleyman Nazoglu, D. Yıldızdaş +3 more
2015Pediatric annals3 citations
Semantic Scholar
Two Novel Missense Mutations in Nonketotic Hyperglycinemia
B. Yilmaz, D. Kor, S. Ceylaner, G. Mert +3 more
2015Journal of Child Neurology3 citations
Semantic Scholar
Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia
Mujahid Ahmad, A. ElRasoul, Raneem Sedayou, M. Tamboosi +11 more
2024Journal of International Medical Research2 citations Open access
Semantic Scholar
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
A. Whitehouse, P. Rehsi, L. Hartley, S. Grunewald +5 more
2023JIMD Reports2 citations Open access
Semantic Scholar
Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders
S. Kılavuz, F. Bulut, D. Kor, B. Yilmaz +6 more
2023Çocuk Dergisi / Journal of Child1 citations Open access
Semantic Scholar
Gaucher disease type II or type III: a case report of an intermediate form with a new mutation
B. Yilmaz, D. KÖr, F. Incecik, F. Ozkinay +2 more
20141 citations Open access
Semantic Scholar
Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia
Sibel Öz Yıldız, H. Mungan, D. Kor, F. Bulut +3 more
2025Sisli Etfal Hastanesi tip bulteni0 citations Open access
Semantic Scholar
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
A. Inan, B. Yilmaz, F. Bulut, S. Kılavuz +3 more
20210 citations Open access
Semantic Scholar
COVID-19 Pneumonia Patients Using Tocilizumab In Intensive Care Unit: Case Series
B. Yilmaz, Büşra Ergut Sezer, Mustafa Günkaya, L. C. Onar +1 more
2020Turkish Journal of Intensive Care0 citations Open access
Semantic Scholar
First case report of Gaucher disease and Graves' thyroiditis
N. Mungan, D. KÖr, S. Kılavuz, D. Bulut +1 more
20200 citations
Semantic Scholar
P433 An interesting case diagnosed as both phenylketonuria and maternal phenylketonuria
Sibel Öz, D. Kor, S. Kılavuz, F. Bulut +5 more
2019Abstracts0 citations Open access
Semantic Scholar
GP49 Munchausen by proxy syndrome in three siblings diagnosed as isovaleric acidemia
Sibel Öz, S. Kılavuz, D. Kor, F. Bulut +3 more
2019Abstracts0 citations Open access
Semantic Scholar
A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosis
N. Mungan, S. Kılavuz, D. Bulut, D. KÖr +2 more
20180 citations
Semantic Scholar
Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations
Özgün Araştırma, B. Yilmaz, F. Bulut, S. Kılavuz
2018Turkish Journal of Pediatric Disease0 citations Open access
Semantic Scholar
Early onset alpha-mannosidosis: A Turkish case
N. Mungan, B. Yilmaz, D. KÖr, D. Bulut +2 more
20180 citations
Semantic Scholar
Successful cardiovascular surgery experience and enzyme replacement therapy in type 3C Gaucher disease
N. Mungan, D. Bulut, O. Salih, Ö. Gülcan +6 more
20170 citations
Semantic Scholar
Chanarin-Dorfman syndrome: A case report
N. Mungan, E. Tuncez, B. Yilmaz, G. Leblebisatan +3 more
20160 citations
Semantic Scholar

Frequent co-authors

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N. Mungan×16
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N. Mungan — researcher profile on SciRah
D. KÖr×9
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D. KÖr — researcher profile on SciRah
S. Kılavuz×9
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S. Kılavuz — researcher profile on SciRah
D. Kor×8
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D. Kor — researcher profile on SciRah

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F. Bulut — researcher profile on SciRah

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S. Ceylaner — researcher profile on SciRah

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D. Bulut — researcher profile on SciRah

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J. Baruteau — researcher profile on SciRah

Sevcan Erdem×3

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Halise Neslihan Önenli Mungan×3

D. Perocheau×2

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