Expanding the clinical and genetic spectrum of PCYT2-related disorders

Brain. 2020 Sep 1;143(9):e76. doi: 10.1093/brain/awaa229.

Valentina Vélez-Santamaría^{1

2}, Edgard Verdura^{1

3}, Colleen Macmurdo⁴, Laura Planas-Serra^{1

3}, Agatha Schlüter^{1

3}, Josefina Casas^{5

6}, Juan José Martínez^{1

3}, Carlos Casasnovas^{1

2

3}, Yue Si⁷, Stephanie S Thompson⁴, Reza Maroofian⁸, Aurora Pujol^{1

3

9}

¹ Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
² Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.
³ Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain.
⁴ Division of Medical Genetics, Baylor Scott and White Health, Temple, Texas, USA.
⁵ RUBAM, Department of Biological Chemistry, IQAC-CSIC, Madrid, Spain.
⁶ Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD) ISCIII 28029 Madrid, Spain.
⁷ GeneDx, Inc., Gaithersburg, Maryland, USA.
⁸ Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.
⁹ Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.

No abstract available

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