Search Results - "Şeker, Berna"

Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign by Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli

“…Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region,…”
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Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience by Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli

“…Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts…”
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A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome by Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli

“…Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a…”
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Hiperkarotenemi by Nefise Hilal Cansever Övetti, Halise Neslihan Önenli Mungan, Berna Şeker Yılmaz, Fatma Derya Bulut

“…Bir Olgu Nedeni İle Hiperkarotenemi…”
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Targeting the liver to treat the eye by Seker Yilmaz, Berna, Gissen, Paul

“…Over the last two decades, gene therapy has given hope of potential cure for many rare diseases. In the simplest form, gene therapy is the transfer or editing…”
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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease by Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A, Gissen, Paul

“…Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in or . This review focuses on poorly characterized clinical and molecular…”
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Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri by Kor,Deniz, Bulut,Derya, Şeker Yılmaz,Berna, Kılavuz,Sebile, Önenli Mungan,Halise Neslihan

“…Amaç: Bu çalışmada farklı tiplerinde değişen oranlarda multisistemik tutuluma, nörolojik bulguların da eşlik ettiği mukopolisakkaridozlu hastalarda, serum…”
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Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency by Seker Yilmaz, Berna, Gissen, Paul

“…Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be…”
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L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu by İncecik, Faruk, Mungan, Neslihan, Hergüner, Özlem Mihriban, Kör, Deniz, Şeker, Berna, Altunbasak, Sakir

“…L-2-hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal…”
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Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family by Kılıç Yıldırım, Gonca, Yarar, Coşkun, Şeker Yılmaz, Berna, Ceylaner, Serdar

“…Niemann-Pick type C (NPC) disease is a rare progressive neurodegenerative condition that is characterized by the accumulation of cholesterol,…”
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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders by Yılmaz, Berna Şeker, Ceylaner, Serdar, Mungan, Neslihan Önenli

“…Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three…”
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Evaluation of bone health in patients with mucopolysaccharidosis by Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

“…Introduction This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D 3…”
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Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia by Şeker Yılmaz, Berna, Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Ceylaner, Serdar, Önenli Mungan, Halise Neslihan

“…Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (mut0 or mut– enzymatic subtype), a…”
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Predictors of Intractable Childhood Epilepsy by Seker Yilmaz, Berna, MD, Okuyaz, Cetin, MD, Komur, Mustafa, MD

“…Abstract Our study sought to identify early predictive factors of medically intractable childhood epilepsy. A cohort of epileptic children from the city of…”
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Novel therapies for mucopolysaccharidosis type III by Seker Yilmaz, Berna, Davison, James, Jones, Simon A., Baruteau, Julien

“…Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. The…”
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Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys by Baruteau, Julien, Cunningham, Sharon C., Yilmaz, Berna Seker, Perocheau, Dany P., Eaglestone, Simon, Burke, Derek, Thrasher, Adrian J., Waddington, Simon N., Lisowski, Leszek, Alexander, Ian E., Gissen, Paul

“…X-linked inherited ornithine transcarbamylase deficiency (OTCD) is the most common disorder affecting the liver-based urea cycle, a pathway enabling…”
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An ignored cause of red urine in children: rhabdomyolysis due to carnitine palmitoyltransferase II (CPT-II) deficiency by Melek, Engin, Bulut, Fatma Derya, Atmış, Bahriye, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Mungan, Neslihan Önenli

“…Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively inherited disorder involving the β-oxidation of long-chain fatty acids, which…”
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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study by Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul

“…Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia…”
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Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency by Ibrahim, Majitha Seyed, Gold, Jessica I, Woodall, Alison, Yilmaz, Berna Seker, Gissen, Paul, Stepien, Karolina M

“…Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive…”
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Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose by Kör, Deniz, Yılmaz, Berna Şeker, Bulut, Fatma Derya, Ceylaner, Serdar, Mungan, Neslihan Önenli

“…Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in…”
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