Search Results - "Kahraman, Ayça"

COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity by Kahraman, Ayca Burcu, Yıldız, Yılmaz, Çıkı, Kısmet, Erdal, Izzet, Akar, Halil Tuna, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap

“…Old age, obesity, and certain chronic conditions are among the risk factors for severe COVID-19. More information is needed on whether inherited metabolic…”
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Invisible burden of COVID-19: enzyme replacement therapy disruptions by Kahraman, Ayça Burcu, Yıldız, Yılmaz, Çıkı, Kısmet, Akar, Halil Tuna, Erdal, İzzet, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Hatice Serap

“…Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal…”
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Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy by Çıkı, Kısmet, Yıldız, Yılmaz, Kahraman, Ayça Burcu, Özgül, R. Köksal, Coşkun, Turgay, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap

“…Phenylalanine (Phe)-restricted diet is associated with lower quality of life for patients with phenylketonuria (PKU), and a concern for caregivers of…”
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Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study by Köse, Engin, Kasapkara, Çiğdem Seher, İnci, Aslı, Yıldız, Yılmaz, Sürücü Kara, İlknur, Kahraman, Ayça Burcu, Tümer, Leyla, Dursun, Ali, Eminoğlu, Fatma Tuba

“…Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical…”
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Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity by Dursun, Ali, Yalnizoglu, Dilek, Yilmaz, Didem Yucel, Oguz, Kader Karli, Gülbakan, Basri, Koşukcu, Can, Akar, Halil Tuna, Kahraman, Ayça Burcu, Acar, Neşe Vardar, Günbey, Ceren, Yildiz, Yilmaz, Ozgul, R. Koksal

“…ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three…”
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COVID-19-related anxiety in phenylketonuria patients by Akar, Halil Tuna, Yıldız, Yılmaz, Dursun, Ali, Tokatlı, Ayşegül, Coşkun, Turgay, Erdal, İzzet, Kahraman, Ayça Burcu, Çıkı, Kısmet, Karaboncuk, Yamaç, Sivri, H Serap

“…Background. Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse…”
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Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients by Akar, Halil Tuna, Yıldız, Yılmaz, Güvenkaya, Gökhan, Çıkı, Kısmet, Kahraman, Ayça Burcu, Erdal, İzzet, Coşkun, Turgay, Dursun, Ali, Sivri, Hatice Serap, Tokatlı, Ayşegül

“…Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration,…”
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Electrical, Film and Surface Properties of Water-Based Latexes Prepared by Semicontinuous Emulsion Polymerization by Kahraman, Ayça, Sarac, Ayfer

“…In this study, the results obtained with latexes prepared by semicontinuous emulsion polymerization with conventional anionic and nonionic emulsifiers and…”
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Semibatch emulsion copolymerization in the presence of n-methylol acrylamide: effects of emulsifier type and concentration by Kahraman, Ayça, Sarac, Ayfer

“…Two types of emulsifier were studied to compare the colloidal and physicochemical properties of vinyl acetate (VAc)/(BuA) emulsions. Emulsions were prepared by…”
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Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency by Kahraman, Ayca Burcu, Yildiz, Yılmaz, Gokmen-Ozel, Hulya, Kadayifcilar, Sibel, Sivri, Serap

“…•There are patients with early-onset LCHAD deficiency with poor metabolic control despite standard therapy.•The frequency and severity of rhabomyolysis was…”
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Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III by Kahraman, Ayca Burcu, Yaz, Ismail, Gocmen, Rahsan, Aytac, Selin, Metin, Ayse, Kilic, Sara Sebnem, Tezcan, Ilhan, Cagdas, Deniz

“…Background Leukocyte and platelet integrin function defects are present in leukocyte adhesion deficiency type III (LAD-III) due to mutations in FERMT3 …”
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Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome by Kahraman, Ayca Burcu, Karakaya, Bekir, Yıldız, Yılmaz, Kamaci, Saygin, Kesici, Selman, Simsek-Kiper, Pelin Ozlem, Kurt-Sukur, Eda Didem, Bayrakcı, Benan, Haliloglu, Goknur

“…•LPIN1 deficiency should be considered among other genetic/metabolic causes of rhabdomyolysis at all ages.•Acute compartment syndrome (ACS) may develop due to…”
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Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience by Kahraman, Ayca Burcu, Simsek‐Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray

“…Genetic skeletal disorders (GSDs) are clinically and etiologically heterogeneous group of disorders caused by abnormal growth and development of bone and/or…”
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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 by Kahraman, Ayca Burcu, Akar, Halil Tuna, Güleray Lafcı, Naz, Yıldız, Yılmaz, Tokatlı, Ayşegül

“…Tyrosinemia type III is an extremely rare autosomal recessive disease, with only 19 patients yet reported. It is caused by a deficiency of the…”
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Study on the Vinyl Acetate-co-Butyl Acrylate Latexes in the Presence of N-Methylol Acrylamide and Mixed Type Emulsifiers by Kahraman, Ayca, Sarac, Ayfer

“…The properties of copolymer latexes depend on the copolymer composition, polymer morphology, initiator, polymerization medium and colloidal characteristics of…”
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A Study on the Vinyl Acetate-co-Butyl Acrylate Latexes in the Presence of N-Methylol Acrylamide and Mixed Type Emulsifiers by Kahraman, Ayca, Sarac, Ayfer

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Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency by Kahraman, Ayca Burcu, Yildiz, Yılmaz, Gokmen-Ozel, Hulya, Kadayifcilar, Sibel, Sivri, Serap

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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 by Kahraman, Ayca Burcu, Akar, Halil Tuna, Güleray Lafcı, Naz, Yıldız, Yılmaz, Tokatlı, Ayşegül

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Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome by Kahraman, Ayca Burcu, Karakaya, Bekir, Yıldız, Yılmaz, Kamaci, Saygin, Kesici, Selman, Simsek-Kiper, Pelin Ozlem, Kurt-Sukur, Eda Didem, Bayrakcı, Benan, Haliloglu, Goknur

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