Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

por Yıldız, Yılmaz, Sivri, H. Serap
Publicado 2021

Climate risk, culture and the Covid-19 mortality: A cross-country analysis

por Ozkan, Aydin, Ozkan, Gulcin, Yalaman, Abdullah, Yildiz, Yilmaz
Publicado 2021

Board gender diversity and responsible banking during the COVID-19 pandemic

por Kara, Alper, Nanteza, Aziidah, Ozkan, Aydin, Yildiz, Yilmaz
Publicado 2022

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

por Mısırlıgil, Mina, Yıldız, Yılmaz, Akın, Onur, Odabaşı Güneş, Sevinç, Arslan, Mutluay, Ünay, Bülent
Publicado 2021

Oral health status of children and young adults with maple syrup urine disease in Turkey

por Ballikaya, Elif, Yildiz, Yılmaz, Koç, Nagihan, Tokatli, Ayşegül, Uzamis Tekcicek, Meryem, Sivri, Hatice Serap
Publicado 2021

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

por Vurallı, Doğuş, Yıldız, Yılmaz, Ozon, Alev, Dursun, Ali, Gönç, Nazlı, Tokatlı, Ayşegül, Sivri, H. Serap, Alikaşifoğlu, Ayfer
Publicado 2022

COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

por Kahraman, Ayca Burcu, Yıldız, Yılmaz, Çıkı, Kısmet, Erdal, Izzet, Akar, Halil Tuna, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap
Publicado 2023

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

por Yavuz, Ozlem Ozkale, Ayaz, Ercan, Yıldız, Yılmaz, Karaosmanoglu, Ayca Akgoz, Bulut, Elif, Sivri, H. Serap Kalkanoglu, Oguz, Kader K.
Publicado 2022

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset

por Capiau, Sara, Smet, Joél, De Paepe, Boel, Yildiz, Yilmaz, Arslan, Mutluay, Stevens, Olivier, Verschoore, Maxime, Stepman, Hedwig, Seneca, Sara, Vanlander, Arnaud
Publicado 2022

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

por Akar, Halil Tuna, Yıldız, Yılmaz, Güvenkaya, Gökhan, Çıkı, Kısmet, Kahraman, Ayşe Burcu, Erdal, İzzet, Coşkun, Turgay, Dursun, Ali, Sivri, Hatice Serap, Tokatlı, Ayşegül
Publicado 2022

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

por Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Publicado 2020

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

por Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Publicado 2020

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

por Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Publicado 2021

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

por Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Publicado 2022

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas...

por Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry
Publicado 2022