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M. Kılıç · SciRah

Researcher profile · Semantic Scholar

M. Kılıç

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M. Kılıç — researcher profile on SciRah

h-index: 15
Works: 78
Citations: 650

Most-cited papers

Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway.
Burhanettin Gönüldaş, T. Yılmaz, H. Sivri, K. Ş. Güçer +4 more
2014International Journal of Pediatric Otorhinolaryngology71 citations
Semantic Scholar
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
M. Karaca, R. Özgül, Ö. Ünal, Didem Yücel-Yılmaz +6 more
2015European Journal of Pediatrics45 citations
Semantic Scholar
Effect of swimming on bone metabolism in adolescents.
O. Derman, Alphan Cinemre, N. Kanbur, Muhsin Doğan +2 more
2008Turkish Journal of Pediatrics40 citations Open access
Semantic Scholar
Flow and heat transfer analysis of submerged multiple synthetic jet impingement in a square channel with forced-flow
Unal Akdag, S. Akçay, M. Kılıç, B. Gungor
2024International Communications in Heat and Mass Transfer31 citations
Semantic Scholar
Neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, and platelet-to-lymphocyte ratio in different etiological causes of thyrotoxicosis
I. Taşkaldıran, T. Omma, Ç. E. Önder, S. Fırat +4 more
2019Turkish Journal of Medical Sciences30 citations Open access
Semantic Scholar
Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.
M. Kılıç, R. Özgül, T. Coskun, D. Yücel +6 more
2012JIMD Reports25 citations Open access
Semantic Scholar
Low stroke incidence in the TEMPiS telestroke network during COVID-19 pandemic: Effect of lockdown on thrombolysis and thrombectomy
F. Schlachetzki, C. Theek, N. Hubert, M. Kılıç +3 more
2020Journal of Telemedicine and Telecare22 citations Open access
Semantic Scholar
Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
M. Kılıç, A. Dursun, T. Coskun, A. Tokatlı +14 more
2017American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
A. Dursun, R. Özgül, Serap Sivri, A. Tokatlı +7 more
2011JIMD Reports21 citations Open access
Semantic Scholar
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
A. Olgaç, Ülkühan Öztoprak, Ç. Kasapkara, M. Kılıç +5 more
2019Journal of Pediatric Endocrinology & Metabolism (JPEM)20 citations
Semantic Scholar
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine
M. Kılıç, Özge Dedeoğlu, Rahşan Göçmen, S. Kesici +1 more
2016Metabolic brain disease20 citations
Semantic Scholar
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
R. Özgül, M. Karaca, M. Kılıç, O. Kucuk +8 more
2014European Journal of Medical Genetics19 citations
Semantic Scholar
A patient with mitochondrial disorder due to a novel mutation in MRPS22
M. Kılıç, K. Oğuz, E. Kılıç, D. Yüksel +4 more
2017Metabolic brain disease17 citations
Semantic Scholar
Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review
M. Kılıç, S. Dorum, A. Topak, M. U. Yazıcı +2 more
2020American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency
M. Kılıç, Ç. Kasapkara, D. Yılmaz, R. Özgül
2019Metabolic brain disease15 citations
Semantic Scholar
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.
M. Kılıç, M. Taşkesen, T. Coşkun, F. Gürakan +5 more
2012JIMD Reports15 citations Open access
Semantic Scholar
Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
A. Olgaç, Ç. Kasapkara, M. Kılıç, E. Keskin +4 more
2020Journal of Pediatric Endocrinology & Metabolism (JPEM)14 citations Open access
Semantic Scholar
Deoxyguanosine kinase deficiency: a report of four patients
Ö. Ünal, B. Hismi, M. Kılıç, H. Gülşen +5 more
2017Journal of Pediatric Endocrinology & Metabolism (JPEM)14 citations
Semantic Scholar
Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report
M. Kılıç, N. Kaymaz, R. Özgül
2014Journal of Clinical Research in Pediatric Endocrinology14 citations Open access
Semantic Scholar
The relationship between pubertal gynecomastia, prostate specific antigen, free androgen index, SHBG and sex steroids
M. Kılıç, N. Kanbur, O. Derman, Sinem Akgül +1 more
2011Journal of Pediatric Endocrinology & Metabolism (JPEM)13 citations
Semantic Scholar
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
M. Kılıç, H. Sivri, A. Dursun, A. Tokatlı +6 more
2011Turkish Journal of Pediatrics12 citations
Semantic Scholar
Jeg‐3 Human Choriocarcinoma‐Induced Immunosuppression: Downregulation of Interleukin‐2, Interleukin‐2 Receptor α‐Chain, and Its Jak/Stat Signaling Pathway
M. Kılıç, E. Flossmann, O. Flossmann, H. Vogelsang +3 more
1999American Journal of Reproductive Immunology9 citations
Semantic Scholar
Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.
Çiğdem Genç Sel, M. Kılıç, D. Yüksel, A. Aksoy +3 more
2018Brain & development (Tokyo. 1979)8 citations
Semantic Scholar
Purpura fulminans in a newborn infant with galactosemia
A. Zenciroğlu, M. İpek, M. Aydın, A. Kara +2 more
2010European Journal of Pediatrics8 citations
Semantic Scholar
Oxidative Stress in Intoxıcation Type Inborn Errors of Metabolism using Thiol-Disulfide Ratio.
Veysel Çam, A. Olgaç, M. Kılıç, O. Erel +2 more
2021Journal of the College of Physicians and Surgeons--Pakistan : JCPSP7 citations Open access
Semantic Scholar
MAN1B1-CDG: novel patients and novel variant
Ç. Kasapkara, A. Olgaç, M. Kılıç, L. Keldermans +2 more
2021Journal of Pediatric Endocrinology & Metabolism (JPEM)7 citations Open access
Semantic Scholar
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase
M. Kılıç, Ç. Kasapkara, S. Kılavuz, N. Mungan +1 more
2019Metabolic brain disease7 citations
Semantic Scholar
Bone mineral density in pediatric patients with meningomyelocele
I. Kafadar, B. Kilic, F. Yılmaz, M. Kılıç
2015Child's Nervous System7 citations
Semantic Scholar
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia
Harun Bayrak, Y. Yıldız, A. Olgaç, Ç. Kasapkara +5 more
2021Metabolic brain disease6 citations
Semantic Scholar
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
M. Kılıç, R. Özgül, A. Dursun, A. Tokatlı +4 more
2013Turkish Journal of Pediatrics6 citations Open access
Semantic Scholar
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
T. Coskun, H. I. Aydın, M. Kılıç, A. Dursun +4 more
2009Turkish Journal of Pediatrics6 citations Open access
Semantic Scholar
Environmental tobacco smoke: is it a risk factor for diarrhea in 6-18 months old infants?
E. Özmert, M. Kılıç, K. Yurdakök
2008Central European Journal of Public Health6 citations Open access
Semantic Scholar
Choriocarcinoma-induced suppression of lymphocyte activity.
U. Markert, M. Kılıç, E. Schleussner, H. Vogelsang
2000Journal of investigational allergology & clinical immunology6 citations
Semantic Scholar
Case report of a complicated neurologically manifesting acute porphyria treated successfully with Givosiran.
Tim Steinberg, M. Kılıç, K. Fuchs, Karel Hanyk +3 more
2021Journal of Neurological Sciences5 citations
Semantic Scholar
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
M. Kılıç, S. Şenel, K. Karaer, S. Ceylaner
2017Turkish Journal of Pediatrics5 citations Open access
Semantic Scholar
PMM2-CDG and sensorineural hearing loss
Ç. Kasapkara, Z. Barış, M. Kılıç, D. Yüksel +3 more
2017Journal of Inherited Metabolic Disease5 citations
Semantic Scholar
Pituitary Gland Metastasis of Breast Cancer: A Case Report
C. Ozkan, Ç. Arslan, M. Kılıç, M. Erman +1 more
20125 citations Open access
Semantic Scholar
First cardiac manifestation of hypotonia-cystinuria syndrome
M. Kılıç, A. Ceylan, U. Örün, E. Kılıç
2018Metabolic brain disease4 citations
Semantic Scholar
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.
E. Kılıç, M. Kılıç, G. Utine, Serap Sivri +2 more
2014Turkish Journal of Pediatrics4 citations Open access
Semantic Scholar
Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
A. Olgaç, Ç. Kasapkara, B. Derinkuyu, D. Yüksel +8 more
2021Journal of Pediatric Endocrinology & Metabolism (JPEM)3 citations
Semantic Scholar
Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.
Y. Yıldız, Mutlu Uysal Yazıcı, H. G. Çınar, Ferda Özbay Hoşnut +2 more
2020Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]3 citations
Semantic Scholar
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
A. Olgaç, Ç. Kasapkara, M. Kılıç, Betül Emine Derinkuyu +6 more
2020Archivos Argentinos de Pediatria3 citations Open access
Semantic Scholar
Hypoalbuminemia and Malnutrition Associated With Cow’s Milk Allergy: A Case Report
Esma Altınel Açoğlu, M. Akçaboy, Melahat Melek Oguz, M. Kılıç +2 more
2016Iranian Red Crescent Medical Journal3 citations Open access
Semantic Scholar
Urolithiasis in an infant with propionic acidemia: Questions
Aysun Çaltık Yılmaz, M. Kılıç, Bahar Büyükkaragöz, Aslı Çelebi Tayfur +1 more
2013Pediatric nephrology (Berlin, West)3 citations
Semantic Scholar
The intersection of two global problems: Refugees and inborn errors of metabolism
A. Olgaç, Nazli Gulenc, Ç. Kasapkara, M. Kılıç +2 more
2021Annals of Medical Research2 citations Open access
Semantic Scholar
The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders
A. Olgaç, Ç. Kasapkara, B. Açıkel, Y. Yıldız +2 more
2021Journal of Pediatric Research2 citations Open access
Semantic Scholar
Retrospective Evaluation of Clinical and Molecular Characteristics of Patients with Fabry Disease Being Followed-Up in Our Clinic
Ç. Kasapkara, A. Olgaç, İ. Yıldız, H. Kasapkara +1 more
20212 citations
Semantic Scholar
Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
E. Kılıç, Busranur Cavdarli, Gönül Büyükyılmaz, M. Kılıç
2021Journal of Pediatric Endocrinology & Metabolism (JPEM)2 citations
Semantic Scholar
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
M. Kılıç, Bekir Ergüner, C. Koşukcu, R. Özgül
2020Turkish Journal of Pediatrics2 citations Open access
Semantic Scholar
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Turkish Child with a Novel HIBCH Gene Mutation and Literature Review
M. Kılıç, Fatma Kurt-Çolak
2020Molecular Syndromology2 citations Open access
Semantic Scholar

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Ç. Kasapkara — researcher profile on SciRah
T. Coskun×12
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T. Coskun — researcher profile on SciRah
R. Özgül×10
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R. Özgül — researcher profile on SciRah
A. Olgaç×10
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A. Tokatlı — researcher profile on SciRah

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A. Dursun — researcher profile on SciRah

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D. Yüksel — researcher profile on SciRah

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H. Sivri — researcher profile on SciRah

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S. Ceylaner — researcher profile on SciRah

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Serap Sivri — researcher profile on SciRah

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E. Kılıç — researcher profile on SciRah

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M. Karaca — researcher profile on SciRah