Search Results - "Çelik, Merve Yoldaş"

Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome by Ozek, Gülcihan, Aksoylar, Serap, Uçar, Sema Kalkan, Canda, Ebru, Akcan, Mediha, Cartı, Ozgür, Siviş, Zuhal Onder, Oymak, Yeşim, Yazıcı, Havva, Bax, Bridget, Bulut, Fatma Derya, Yoldaş Çelik, Merve, Erdem, Fehime, Çoker, Mahmut, Kansoy, Savaş

“…Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical…”
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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl by Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Yanbolu, Ayse Yuksel, Aykut, Ayca, Durmaz, Asude, Anik, Ahmet, Ucar, Sema Kalkan, Coker, Mahmut

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter…”
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Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine by Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Ucar, Sema Kalkan, Coker, Mahmut

“…Aim: During the coronavirus disease-2019 (COVID-19) pandemic, visiting the hospital and getting regular infusions can be difficult for patients with chronic…”
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COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience by Yoldaş Çelik, Merve, Canda, Ebru, Yazıcı, Havva, Erdem, Fehime, Yazıcı Özkaya, Pınar, Bal Sahbudak, Zumrut, Kalkan Uçar, Sema, Çoker, Mahmut

“…Coronavirus disease 2019 (COVID-19) causes significant morbidity and mortality in individuals with chronic disease. There is not enough information about the…”
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Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance by Kalkan Uçar, Sema, Altınok, Yasemin Atik, Mansuroglu, Yelda, Canda, Ebru, Yazıcı, Havva, Çelik, Merve Yoldaş, Erdem, Fehime, Yanbolu, Ayşe Yüksel, Ülger, Zülal, Çoker, Mahmut

“…Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic,…”
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OP-122 Mucopolysaccharidosis type II in turkey from the east to the west by Yazıcı, Havva, Kara, Esra, Bulut, Fatma Derya, Çelik, Merve Yoldaş, Köşeci, Burcu, Karapınar, Fehime Erdem, Burgaç, Ezgi, Yanbolu, Ayşe Yüksel, Kaplan, İrem, Durmaz, Asude, Aykut, Ayça, Canda, Ebru, Kor, Deniz, Uçar, Sema Kalkan, Sözmen, Eser, Çoker, Mahmut, Önenli Mungan, Halise Neslihan

“…AimThe aims of reporting these cases were to better characterise the phenotypic and genotypic features of a large group of Turkish Mucopolysaccharidosis type…”
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Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency by Yoldas Celik, Merve, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Yuksel Yanbolu, Ayse, Atik Altinok, Yasemin, Pariltay, Erhan, Akin, Haluk, Kalkan Ucar, Sema, Coker, Mahmut

“…APO CII, one of several cofactors which regulate lipoprotein lipase enzyme activity, plays an essential role in lipid metabolism. Deficiency of APO CII is an…”
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Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form by Yazıcı, Havva, Ak, Gunes, Çelik, Merve Yoldas, Erdem, Fehime, Yanbolu, Ayse Yuksel, Er, Esra, Bozacı, Ayse Ergül, Güvenç, Merve Saka, Aykut, Ayca, Durmaz, Asude, Canda, Ebru, Uçar, Sema Kalkan, Çoker, Mahmut

“…Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal…”
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Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb by Yoldas Celik, Merve, Yazıcı, Havva, Erdem, Fehime, Canda, Ebru, Sarsik Kumbaraci, Banu, Kaplan Bulut, Ipek, Kalkan Ucar, Sema, Kabasakal, Süleyman Caner, Çoker, Mahmut

“…Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of…”
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Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl by Yoldas Celik, Merve, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Yuksel Yanbolu, Ayse, Aykut, Ayca, Durmaz, Asude, Anik, Ahmet, Kalkan Ucar, Sema, Coker, Mahmut

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl by Yoldas Celik, Merve, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Yuksel Yanbolu, Ayse, Aykut, Ayca, Durmaz, Asude, Anik, Ahmet, Kalkan Ucar, Sema, Coker, Mahmut

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter…”
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