Search Results - "Akar, Halil"

A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections by Yakıcı, Nalan, Oskay Halaçlı, Sevil, Tan, Çağman, Gür Çetinkaya, Pınar, Akar, Halil T, Çavdarlı, Büşra, Özbek, Begüm, Çağdaş, Deniz, Tezcan, İlhan

“…Chronic mucocutaneous candidiasis leads to persistent or recurrent fungal infections of the nail, skin, oral, and genital mucosa. Impaired interleukin…”
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Correction: Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia by Akar, Halil Tuna, Yıldız, Harun, Öztürk, Zeynelabidin, Karakaya, Deniz, Sezer, Abdullah, Olgaç, Asburçe

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Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia by Akar, Halil Tuna, Yıldız, Harun, Öztürk, Zeynelabidin, Karakaya, Deniz, Sezer, Abdullah, Olgaç, Asburçe

“…The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive…”
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Challenging diagnosis and rare disease in children: Dermatitis artefacta by Isiyel, Emel, Ersoy Evans, Sibel, Akar, Halil Tuna, Gurbanov, Anar, Karaduman, Aysen, Foto‐Ozdemir, Dilsad, Teksam, Ozlem

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From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood by Ezgi Demirel Özbek, Jale Nezerli, Halil Tuna Akar, Didem Yücel Yılmaz, Ali Dursun, Rahşan Göçmen, Neşe Dericioğlu

“…L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive metabolic disorder that causes central nervous system dysfunction. We present the case of a…”
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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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Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency by Akar, Halil Tuna, Çağan, Murat, Yıldız, Yılmaz, Sivri, H. Serap

“…•The clinical spectrum of patients with VLCAD defect is quite wide.•Serious complications of the disease include rhabdomyolysis and cardiomyopathy.•Special…”
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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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Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury by Akar, Halil Tuna, Yıldız, Yılmaz, Mutluay, Rüya, Tekin, Emel, Tokatlı, Ayşegül

“…Metabolic myopathies are among the treatable causes of rhabdomyolysis and myoglobinuria. Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the…”
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Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome by Ensert Cihan, Cansu Kethuda, Akar, Halil Tuna, Yıldız, Yılmaz, Sogukpinar, Merve, Utine, Gulen Eda, Çelik, Hasan Tolga

“…Introduction: Propionic acidemia (PA) is an inborn error of organic acid metabolism inherited in an autosomal recessive manner. The neonatal-onset disease may…”
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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals by Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem

“…Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this…”
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Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience by Akar, Halil Tuna, Esenboga, Saliha, Cagdas, Deniz, Halacli, Sevil Oskay, Ozbek, Begum, van Leeuwen, Karin, de Boer, Martin, Tan, Cagman Sun, Köker, Yavuz, Roos, Dirk, Tezcan, Ilhan

“…Background Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH…”
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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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Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center by Yoldaş, Tuba Çelen, Gürbüz, Berrak Bilginer, Akar, Halil Tuna, Özmert, Elif Nursel, Coşkun, Turgay

“…There is increased awareness regarding the co-occurrence of autism spectrum disorder (ASD) and inherited metabolic disorders (IMD), and this is crucial for the…”
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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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Compassionate medicine-use programmes in Turkey: a report on current status by Vural, Elif H., Kockaya, Guvenc, Tanyeri, Pelin, Babacan, Salih, Vural, İ. Mert, Akbulat, Akif, Artıran, Güven, Akar, Halil, Tokaç, Mahmut, Kerman, Saim

“…Objective  In Turkey, compassionate use (CU) programmes were started in 2006. Patients suffering from a serious or urgent life‐threatening disease, who have…”
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Off-label and unlicensed oncology medicine use in Turkey: a retrospective analysis of computer records of the Turkish Ministry of Health by Koçkaya, Güvenç, Polat, Mine, Vural, İsmail Mert, Akbulat, Akif, Dedeoglu, Burcak Deniz, Akar, Halil, Kerman, Saim

“…Objectives  The use of off‐label medications is very common. A study published in 2006 found that off‐label use was most common for cardiac medications and…”
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Off-label and unlicensed oncology medicine use in Turkey: a retrospective analysis of computer records of the Turkish Ministry of Health: Unlicensed oncology medicine use in Turkey by Koçkaya, Güvenç, Polat, Mine, Vural, İsmail Mert, Akbulat, Akif, Dedeoglu, Burcak Deniz, Akar, Halil, Kerman, Saim

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