Expanding the clinical and genetic spectrum of PCYT2-related disorders-Reference-Cited by-同舟云学术

Expanding the clinical and genetic spectrum of PCYT2-related disorders

Published:2020-08-21 Issue:9 Volume:143 Page:e76-e76
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Vélez-Santamaría Valentina¹²,Verdura Edgard¹³,Macmurdo Colleen⁴,Planas-Serra Laura¹³,Schlüter Agatha¹³,Casas Josefina⁵⁶,Martínez Juan José¹³,Casasnovas Carlos¹²³,Si Yue⁷,Thompson Stephanie S⁴,Maroofian Reza⁸,Pujol Aurora¹³⁹

Affiliation:

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

Funder

Centre for Biomedical Research on Rare Diseases

CIBERER

Hesperia Foundation

Secretariat for Universities and Research of the Ministry of Business

Knowledge of the Government of Catalonia

Instituto de Salud Carlos III

European Regional Development Fund

European Social Fund

ESF

Sara Borrell

PFIS

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/143/9/e76/34279770/awaa229.pdf

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