Search Results - "Şeker Yılmaz,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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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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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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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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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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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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First case report of Gaucher disease and Graves' thyroiditis by Mungan, Neslihan Önenli, Kor, Deniz, Kılavuz, Sebile, Bulut, Derya, Yılmaz, Berna Şeker

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GP49 Munchausen by proxy syndrome in three siblings diagnosed as isovaleric acidemia by Öz, Sibel, Kılavuz, Sebile, Kor, Deniz, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Neslihan Önenli Mungan, Halise

“…IntroductionIsovaleric acidemia (IVA) is a rare autosomal recessively inherited metabolic disorder caused by deficiency of isovaleryl-Co A dehydrogenase…”
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P433 An interesting case diagnosed as both phenylketonuria and maternal phenylketonuria by Öz, Sibel, Kor, Deniz, Kılavuz, Sebile, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Demir, Fadli, Kartal, Tuğçe Özakçaoğlu, Yıldırım, Gözde Atasever, Neslihan Önenli Mungan, Halise

“…IntroductionPhenylketonuria (PKU) is the most common and autosomal recessively inherited metabolic disease due to the deficiency of phenylalanine hydroxylase…”
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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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Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patients by Mungan, Neslihan, Bulut, Fatma Derya, Şeker-Yılmaz, Berna, Kılavuz, Sebile, Kör, Deniz, Koç, Filiz, Gürkan, Emel, Paydaş, Saime, Güvenç, Birol, Atmış, Bahriye, Deniz, Ali

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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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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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Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey by Seker Yilmaz, Berna, Mungan, Neslihan Onenli, Kor, Deniz, Bulut, Derya, Seydaoglu, Gülşah, Öktem, Murat, Ceylaner, Serdar

“…Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by…”
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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis by Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan

“…Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been…”
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