Search Results - "OZAYDIN, Eda"

Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype by Ceylan, Ahmet Cevdet, Kireker Köylü, Oya, Özyürek, Hamit, Özaydin, Eda, Yön, Mehmet İlker, Kasapkara, Çiğdem Seher

“…Background Idiopathic basal ganglia calcification, also known as Fahr’s disease, it is a neurological disease characterized by intracranial calcification…”
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Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function by Walsh, Meghan T, Iqbal, Jahangir, Josekutty, Joby, Soh, James, Di Leo, Enza, Özaydin, Eda, Gündüz, Mehmet, Tarugi, Patrizia, Hussain, M Mahmood

“…BACKGROUND—The use of microsomal triglyceride transfer protein (MTP) inhibitors is limited to severe hyperlipidemias because of associated hepatosteatosis and…”
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The relationship between vitamin D receptor gene polymorphisms and bone density, osteocalcin level and growth in adolescents by Ozaydin, Eda, Dayangac-Erden, Didem, Erdem-Yurter, Hayat, Derman, Orhan, Coşkun, Turgay

“…The relationship between vitamin D receptor gene polymorphisms and bone density, osteocalcin and growth was investigated. Eighty eight adolescents aged between…”
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Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene by Gündüz, Mehmet, Ekici, Filiz, Özaydın, Eda, Ceylaner, Serdar, Perez, Belen

“…Methylmalonic aciduria and homocystinuria, cobalamin C (CblC) disease (OMIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl)…”
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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance by Gunduz, Mehmet, Ünal-Uzun, Özlem, Koç, Nevra, Ceylaner, Serdar, Özaydın, Eda, Kasapkara, Çiğdem Seher

“…Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea,…”
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PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices by DURUSOY, Cicek, MIHCI, Ercan, TACOY, Sukran, OZAYDIN, Eda, ALPSOY, Erkan

“…ABSTRACT Sternal malformation/vascular dysplasia association is a very rare condition comprised of midline defects and hemangiomas of the face and anterior…”
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A newborn with pentalogy of Cantrell and pulmonary hypoplasia by Unal, Sevim, Cakmak Celik, Fatma, Ozaydin, Eda, Kaçar, Ayper, Günal, Nazlihan

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Management of central diabetes insipidus with oral desmopressin in a patient with ectrodactyly and cleft lip/palate (ECP) syndrome by Ozaydin, Eda, Aycan, Zehra, Yusufoğlu, Arzu Meltem, Cetinkaya, Ergun, Ergen, Saime, Unal, Sevim, Köse, Gülşen

“…We present a female infant with facial abnormalities such as bilateral cleft lip and palate, ectrodactyly and central diabetes insipidus. She had a history of…”
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3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation by Köksal, Tülin, Gündüz, Mehmet, Özaydın, Eda, Azak, Emine

“…3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a rare autosomal…”
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Differences in iron deficiency anemia and mean platelet volume between children with simple and complex febrile seizures by Özaydın, Eda, Arhan, Ebru, Cetinkaya, Bilge, Özdel, Semanur, Değerliyurt, Aydan, Güven, Alev, Köse, Gülsen

“…Abstract Objective The relationship between iron deficiency anemia and febrile seizures (FSs) were examined in several studies before. The aim of our study is…”
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Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up by Gündüz, Mehmet, Özaydın, Eda, Atar, Müge Büyüktaşlı, Koç, Nevra, Kırsaçlıoğlu, Ceyda, Köse, Gülşen, Cefalù, Angelo Baldassare, Averna, Maurizio, Tarugi, Patrizia

“…Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we…”
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The Association Between Vitamin D Status and Recurrent Wheezing by Özaydın, Eda, Bütün, Mehmet Fatih, Çakır, Bahar Çuhacı, Köse, Gülşen

“…Objective To investigate association between vitamin D status and recurrent wheezing in infants. Methods Thirty infants with recurrent wheezing and 45 healthy,…”
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Hypertrophic Cardiomyopathy with Familial Chylomicronemia Syndrome: Is it an Incidental Finding or a New Association? by Gündüz, Mehmet, Koç, Nevra, Özaydın, Eda, Ekici, Filiz

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Viral etiology in infants hospitalized for acute bronchiolitis by Azkur, Dilek, Özaydın, Eda, Dibek-Mısırlıoğlu, Emine, Vezir, Emine, Tombuloğlu, Duygu, Köse, Gülşen, Kocabaş, Can N

“…Acute bronchiolitis is predominantly a viral disease. Respiratory syncytial virus is the most common agent, but other newly identified viruses have also been…”
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Stepwise diet management in pediatric gastrointestinal graft versus host disease by Koç, Nevra, Gündüz, Mehmet, Azık, M Fatih, Tavil, Betül, Gürlek-Gökçebay, Dilek, Özaydın, Eda, Tunç, Bahattin, Uçkan, Duygu

“…Gastrointestinal tract is one of the major systems affected by graft-versus-host disease (GVHD). Injury to the gut during conditioning therapy before stem-cell…”
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A Rare Cause of Protein Losing Enteropathy: Collagenous Sprue by Karaku, Esra, Ekinci, Özgür, K rsaçl o lu, Ceyda Tuna, Özayd n, Eda, Atakan, Canan, Dursun, Ay e

“…Collagenous sprue is a clinicopathological entity with an unknown etiology. Its clinical features include progressive malabsorption, diarrhea, weight loss,…”
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Abstract 232: A Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal ß-Sheet in the Lipid Transfer and ApoB Secretion Activities of Microsomal Triglyceride Transfer Protein by Walsh, Meghan T, Di Leo, Enza, Ozaydin, Eda, Tarugi, Patrizia, Hussain, Mahmood

“…Abstract only Microsomal triglyceride transfer protein (MTP) is critical for the assembly and secretion of apolipoprotein B (apoB)-containing lipoproteins…”
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Abstract 547: A Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of N-terminal β-barrel in Microsomal Triglyceride Transfer Protein Function by Walsh, Meghan, Iqbal, Jahangir, Josekutty, Joby, Soh, James, Di Leo, Enza, Ozaydin, Eda, Gunduz, Mehmet, Tarugi, Patrizia, Hussain, Mahmood

“…Abstract only Background: The use of microsomal triglyceride transfer protein (MTP) inhibitors is limited to severe hyperlipidemias due to associated…”
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Acute hemorrhagic pancreatitis due to the use of valproic acid in a child by Ozaydin, Eda, Yükselgüngör, Handan, Köse, Gülşen

“…Abstract Acute pancreatitis is rarely seen in children, and it is often drug induced. Valproic acid (VPA) is one of the most widely used anticonvulsants for…”
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A new case of VACTERL association with congenital arachnoid cyst by Ünal, Sevim, Kibar, Ayse Esin, Özaydın, Eda, Karadag, Nilgün, Balci, Sevim

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