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Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations Erdem, Fehime; Canda, Ebru; Yazici, Havva; Eser, Rabia; Yoldas Celik, Merve; Kesan, Selcan; Saka Guvenc, Merve; Atik, Tahir; Tamsel, Ipek; Onay, Huseyin; Kalkan Ucar, Sema; Sozmen, Eser Yildirim; Coker, Mahmut Share Save
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Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX Ucar, Sema Kalkan; Elek, Alperen; Yazici, Havva Atik; Altinok, Yasemin; Yanbolu, Ayse Yuksel; Erdem, Fehime; Celik, Merve Yoldas; Aykut, Ayca; Durmaz, Asude; Canda, Ebru; Coker, Mahmut Share Save
Outcome of hematopoietic stem cell transplantation in 19 patients with alpha-mannosidosis Saho, Robert; Formankova, Renata; Eisengart, Julie B.; Lund, Allan; Videbaek, Cecilie; Gurbuz, Berrak Bilginer; Ozbek, Namik Yasar; Al Jasmi, Fatma; Jesina, Pavel; Feillet, Francois; Pochon, Cecile; Guemann, Anne-Sophie; Alsayed, Moeen; Laktina, Sabine; Ucar, Sema Kalkan; Aksoylar, Serap; Lund, Troy; Orchard, Paul J.; Eminoglu, Fatma T.; Ileri, Talia; Kasapkara, cigdem S.; Yesilipek, Akif; Tuncel, Ali Tunc; Jurickova, Katarina; Magner, Martin Share Save
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes Celik, Merve Yoldas; Canda, Ebru; Yazici, Havva; Erdem, Fehime; Yanbolu, Ayse Yuksel; Altinok, Yasemin Atik; Eraslan, Cenk; Aykut, Ayca; Durmaz, Asude; Habif, Sara; Ucar, Sema Kalkan; Coker, Mahmut Share Save
Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia Canbay, Erhan; Canda, Ebru; Yazici, Havva; Kasikci, Gulcin Kayan; Durmaz, Burak; Copur, Oznur; Tahhan, Begum; Duzgun, Dilek; Koru, Zeynep Elcim; Sezer, Ebru; Aydin, Derya; Levent, Resit Erturk; Ucar, Sema Kalkan; Coker, Mahmut; Sozmen, Eser Yildirim Share Save
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Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency Celik, Merve Yoldas; Canda, Ebru; Yazici, Havva; Erdem, Fehime; Yanbolu, Ayse Yuksel; Altinok, Yasemin Atik; Pariltay, Erhan; Akin, Haluk; Ucar, Sema Kalkan; Coker, Mahmut Share Save
Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop Gruenert, Sarah C.; Derks, Terry G. J.; Mundy, Helen; Dalton, R. Neil; Donadieu, Jean; Hofbauer, Peter; Jones, Neil; Ucar, 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. Share Save
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Transport®NPC: open phase 3 global trial of intravenous hydroxypropyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1) Hastings, Caroline A.; Goker-Alpan, Ozlem; Pena, Loren; Bayarri, Jordi Gascon; Martin-Hernandez, Elena; Sharma, Reena; Chacham, Orna Staretz; Spiegel, Ronen; Mengel, Eugen; Walterfang, Mark; Peters, Heidi; Fung, Victor S.; Kiec-Wilk, Beata; Smith, Nicholas; Giugliani, Roberto; Guelbert, Norberto; Ezgu, Fatih; Ucar, Sema Kalkan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph Share Save
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Taliglucerase-alfa experience with 34 Gaucher disease patients from Turkey Mungan, Neslihan Onenli; Coker, Mahmut; Yildirim, Gonca Kilic; Uzun, Ozlem Unal; Ersoy, Melike; Zeybek, Ayse Cigdem Aktuglu; Gunes, Seda; Arslan, Nur; Tumer, Leyla; Kilic, Mustafa; Eminoglu, Tuba; Gunduz, Mehmet; Keskin, Mehmet; Kor, Deniz; Canda, Ebru; Bulut, Derya; Ucar, Sema Kalkan Share Save
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