A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

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

The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders

por Asburçe Olgaç, Çiğdem Seher Kasapkara, Burak Açıkel, Yılmaz Yıldız, Gülhan Karakaya Molla, Mustafa Kılıç
Publicado 2021

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

por 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
Publicado 2021