Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, grow... von Kalkan Uçar, Sema, Altınok, Yasemin Atik, Mansuroglu, Yelda, Canda, Ebru, Yazıcı, Havva, Çelik, Merve Yoldaş, Erdem, Fehime, Yanbolu, Ayşe Yüksel, Ülger, Zülal, Çoker, Mahmut

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Biotinidase Deficiency: Prevalence, Impact And Management Strategies von Canda, Ebru, Kalkan Uçar, Sema, Çoker, Mahmut

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Four cases of Chanarin‐Dorfman syndrome presenting with different types of erythrokeratoderma von Çetinarslan, Tubanur, Yazıcı, Havva, Erdoğan, Kadri Murat, Kalkan Uçar, Sema, Dalgıç, Göksu, Kaya, Gizem, Er, Esra, Bilaç, Cemal, Temiz, Peyker, Türel Ermertcan, Aylin, Fölster‐Holst, Regina

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Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients von Kayıkçıoğlu, Meral, Özbay, Benay, Yağmur, Burcu, Canda, Ebru, Bayraktaroğlu, Selen, Şimşek, Evrim, Kalkan Uçar, Sema

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl von Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Yanbolu, Ayse Yuksel, Aykut, Ayca, Durmaz, Asude, Anik, Ahmet, Ucar, Sema Kalkan, Coker, Mahmut

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Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye von Korkmaz, İlayda, Kalkan Uçar, Sema, Onay, Hüseyin, Yıldırım Sözmen, Eser, Çoker, Mahmut, Palamar, Melis

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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire von Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

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Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels von Canbay, Erhan, Sezer, Ebru, Canda, Ebru, Yazıcı, Havva, Kalkan Uçar, Sema, Çoker, Mahmut, Yildirim Sözmen, Eser

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Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency von Yazıcı, Havva, Canda, Ebru, Onay, Hüseyin, Uçar, Sema Kalkan, Habif, Sara, Çoker, Mahmut

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LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors von Canbay, Erhan, Sezer, Ebru Demirel, Uçar, Sema Kalkan, Çoker, Mahmut, Sözmen, Eser Yıldırım

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Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multip... von Bax, Bridget E, Levene, Michelle, Bain, Murray D, Fairbanks, Lynette D, Filosto, Massimiliano, Kalkan Uçar, Sema, Klopstock, Thomas, Kornblum, Cornelia, Mandel, Hanna, Rahman, Shamima, Roubertie, Agathe, Scarpelli, Mauro, Sedgwick, Philip M, Baru, Moshe, Sellos-Moura, Marcia, Price, Jeanie, Horn, Patrick, Nirmalananthan, Niranjanan

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Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop von Grünert, Sarah C., Derks, Terry G.J., Mundy, Helen, Dalton, R. Neil, Donadieu, Jean, Hofbauer, Peter, Jones, Neil, Uçar, Sema Kalkan, LaFreniere, Jamas, Contreras, Enrique Landelino, Pendyal, Surekha, Rossi, Alessandro, Schneider, Blair, Spiegel, Ronen, Stepien, Karolina M., Wesol-Kucharska, Dorota, Veiga-da-Cunha, Maria, Wortmann, Saskia B.

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Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity von Topbaş, Muhammet, Canbay, Erhan, Sezer, Ebru, Canda, Ebru, Kalkan Uçar, Sema, Çoker, Mahmut, Yıldırım Sözmen, Eser

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Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome von 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

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Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis von Çopur, Oznur, Yazıcı, Havva, Canbay, Erhan, Durmaz, Burak, Canda, Ebru, Ucar, Sema Kalkan, Coker, Mahmut, Sozmen, Eser Yıldırım

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Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia von Canbay, Erhan, Canda, Ebru, Yazıcı, Havva, Kasıkcı, Gulcin Kayan, Durmaz, Burak, Copur, Oznur, Tahhan, Begüm, Düzgün, Dilek, Koru, Zeynep Elçim, Sezer, Ebru, Aydın, Derya, Levent, Resit Erturk, Ucar, Sema Kalkan, Coker, Mahmut, Sozmen, Eser Yıldırım

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Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine von Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Ucar, Sema Kalkan, Coker, Mahmut

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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes von Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget E, Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle

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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation von Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan, Nürnberg, Gudrun, Nürnberg, Peter, Kuhn, Joachim, Ozkinay, Ferda

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COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience von Yoldaş Çelik, Merve, Canda, Ebru, Yazıcı, Havva, Erdem, Fehime, Yazıcı Özkaya, Pınar, Bal Sahbudak, Zumrut, Kalkan Uçar, Sema, Çoker, Mahmut

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