Search Results - "Çavdarlı, Büşra"

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood by Uzun, Özlem Ünal, Çavdarlı, Büşra, Karalök, Selen

“…The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency…”
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A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis by Küçükçongar Yavaş, Aynur, Çavdarlı, Büşra, Ünal Uzun, Özlem, Uncuoğlu, Ayşen, Gündüz, Mehmet

“…Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding…”
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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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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions by Uzun, Özlem Ünal, Cengiz, Nurcan, Çavdarlı, Büşra, Bayrakçı, Umut, Kiremitçi, Saba, Yavaş, Aynur Küçükçongar

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Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers by Uzun, Özlem Ünal, Cengiz, Nurcan, Çavdarlı, Büşra, Bayrakçı, Umut, Kiremitçi, Saba, Yavaş, Aynur Küçükçongar

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New onset mitral regurgitation caused by mitral valve prolapse in a male patient with dominant pretibial dystrophic epidermolysis bullosa by Uysal, Pinar, Akdogan, Neslihan, Cavdarli, Busra, Kahraman, Devrim, Berkalp, Berkten, Gokoz, Ozay

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Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis by Sherif, Maha, Demirbilek, Hüseyin, Çayır, Atilla, Tahir, Sophia, Çavdarlı, Büşra, Demiral, Meliha, Cebeci, Ayşe Nurcan, Vurallı, Doğuş, Rahman, Sofia Asim, Unal, Edip, Büyükyılmaz, Gönül, Baran, Rıza Taner, Özbek, Mehmet Nuri, Hussain, Khalid

“…Bi-allelic mutations in the cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by nonautoimmune diabetes mellitus, optic atrophy, diabetes insipidus,…”
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Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood by Uzun, Özlem Ünal, Çavdarlı, Büşra, Karalök, Selen

“…BACKGROUNDThe mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein…”
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Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations by Oktem, Ayse, Rasulova, Gunel, Cavdarli, Busra, Bostanci, Seher, Heper, Aylin, Vural, Secil

“…The synergistic effect of two mutations of the innate immune system may facilitate hyperactivation and dysregulation of the inflammasome in skin macrophages…”
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The First Case of 4H Syndrome with Type 1 Diabetes Mellitus by Buyukyilmaz, Gonul, Erozan Cavdarlı, Busra, Toksoy Adiguzel, Keziban, Adiguzel, Mehmet, Kasapkara, Cigdem Seher, Gurbuz, Fatih, Boyraz, Mehmet, Gurkas, Esra

“…4H syndrome is a rare progressive hypomyelinating leukodystrophy. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are the 3 classic features of…”
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