Clinical course of sly syndrome (mucopolysaccharidosis type VII) von Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S

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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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Insights into skeletal involvement in adult Gaucher disease: a single-center experience von Yoldaş Çelik, Merve, Canda, Ebru, Yazıcı, Havva, Erdem, Fehime, Yüksel Yanbolu, Ayşe, Aykut, Ayca, Durmaz, Asude, Kalkan Uçar, Sema, Yıldırım Sözmen, Eser, Çoker, Mahmut

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl von Yoldaş Çelik, Merve, Canda, Ebru, Yazıcı, Havva, Erdem, Fehime, Yüksel Yanbolu, Ayşe, Aykut, Ayça, Durmaz, Asude, Anık, Ahmet, Kalkan Uçar, Sema, Çoker, Mahmut

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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, 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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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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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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Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy von Kalkan Uçar, Sema, Yazıcı, Havva, Canda, Ebru, Er, Esra, Bulut, Fatma Derya, Eraslan, Cenk, Onay, Hüseyin, Bax, Bridget Elizabeth, Çoker, Mahmut

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SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey von Kose, Melis, Canda, Ebru, Kagnici, Mehtap, Aykut, Ayça, Adebali, Ogün, Durmaz, Asude, Bircan, Aylin, Diniz, Gulden, Eraslan, Cenk, Kose, Engin, Ünalp, Aycan, Yılmaz, Ünsal, Ozyilmaz, Berk, Özdemir, Taha Reşid, Atik, Tahir, Uçar, Sema Kalkan, McFarland, Robert, Taylor, Robert W., Brown, Garry K., Çoker, Mahmut, Özkınay, Ferda

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Coexistence of Gaucher Disease and severe congenital neutropenia von Kose, Melis Demir, Canda, Ebru, Kağnıcı, Mehtap, Uçar, Sema Kalkan, Onay, Hüseyin, Yıldırım Sozmen, Eser, Karapınar, Deniz, Özkınay, Ferda, Çoker, Mahmut

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients von Grünert, Sarah Catharina, Schlatter, Sonja Marina, Schmitt, Robert Niklas, Gemperle-Britschgi, Corinne, Mrázová, Lenka, Balcı, Mehmet Cihan, Bischof, Felix, Çoker, Mahmut, Das, Anibh M., Demirkol, Mübeccel, de Vries, Maaike, Gökçay, Gülden, Häberle, Johannes, Uçar, Sema Kalkan, Lotz-Havla, Amelie Sophia, Lücke, Thomas, Roland, Dominique, Rutsch, Frank, Santer, René, Schlune, Andrea, Staufner, Christian, Schwab, Karl Otfried, Mitchell, Grant A., Sass, Jörn Oliver

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Alpha-Galactosidase A Activity Levels in Turkish Male Hemodialysis Patients von Kalkan Uçar, Sema, Sozmen, Eser, Duman, Soner, Başçi, Ali, Çoker, Mahmut

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Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb von Yoldas Celik, Merve, Yazıcı, Havva, Erdem, Fehime, Canda, Ebru, Sarsik Kumbaraci, Banu, Kaplan Bulut, Ipek, Kalkan Ucar, Sema, Kabasakal, Süleyman Caner, Çoker, Mahmut

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Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency von Grünert, Sarah Catharina, Schmitt, Robert Niklas, Schlatter, Sonja Marina, Gemperle-Britschgi, Corinne, Balcı, Mehmet Cihan, Berg, Volker, Çoker, Mahmut, Das, Anibh M., Demirkol, Mübeccel, Derks, Terry G.J., Gökçay, Gülden, Uçar, Sema Kalkan, Konstantopoulou, Vassiliki, Christoph Korenke, G., Lotz-Havla, Amelie Sophia, Schlune, Andrea, Staufner, Christian, Tran, Christel, Visser, Gepke, Schwab, Karl Otfried, Fukao, Toshiyuki, Sass, Jörn Oliver

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Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis von Canda, Ebru, Kose, Melis, Kagnici, Mehtap, Dondurmaci, Meral, Ucar, Sema Kalkan, Sozmen, Eser, Levent, Resit Erturk, Coker, Mahmut

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A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage von Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker

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An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis von Er, Esra, Canda, Ebru, Yazici, Havva, Eraslan, Cenk, Sozmen, Eser, Ucar, Sema Kalkan, Coker, Mahmut

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Fabry disease: An overlooked diagnosis in adult cardiac patients von Kayıkçıoğlu, Meral, Şimşek, Evrim, Kalkan Uçar, Sema, Bayraktaroğlu, Selen, Onay, Hüseyin, Sözmen, Eser, Çoker, Mahmut

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False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor von Sozmen, Eser Yildirim, Dondurmaci, Meral, Ucar, Sema Kalkan, Coker, Mahmut

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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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