Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

by Damla Hanalioğlu, Batuhan Yeke, Ahmet Ziya Birbilen, Serap Sivri, Özlem Tekşam
Published 2019-08-01

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

by Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli
Published 2015-01-01

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

by Elif Ballikaya, Yılmaz Yildiz, Nagihan Koç, Ayşegül Tokatli, Meryem Uzamis Tekcicek, Hatice Serap Sivri
Published 2021-01-01

Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

by Berrak Bilginer Gürbüz, Ebru Aypar, Dursun Alehan, Ayşegül Tokatlı, Turgay Coşkun, Ali Dursun, H. Serap Sivri
Published 2021-06-01

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label...

by Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
Published 2021-08-01

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

by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Published 2020-08-01

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

by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Published 2020-05-01

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

by Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Published 2021-09-01

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

by Lorne Clarke MD, Carolyn Ellaway MBBS, PhD, Helen E. Foster MD, MBBS, Roberto Giugliani MD, PhD, Cyril Goizet MD, PhD, Sarah Goring MSc, Sara Hawley MSc, Elaina Jurecki MS, RD, Zaeem Khan MPH, BSc, Christina Lampe MD, Ken Martin MD, Suzanne McMullen MHA, BSc, John J. Mitchell MD, Fathima Mubarack MSc, MHA, H. Serap Sivri MD, Martha Solano Villarreal MD, PhD, Fiona J. Stewart MB, BS, Anna Tylki-Szymanska MD, PhD, Klane White MD, MSc, Frits Wijburg MD, PhD
Published 2018-09-01