Your browser doesn't support javascript.
loading
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Vélez-Santamaría, Valentina; Verdura, Edgard; Macmurdo, Colleen; Planas-Serra, Laura; Schlüter, Agatha; Casas, Josefina; Martínez, Juan José; Casasnovas, Carlos; Si, Yue; Thompson, Stephanie S; Maroofian, Reza; Pujol, Aurora.
Affiliation
  • Vélez-Santamaría V; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Verdura E; Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.
  • Macmurdo C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Planas-Serra L; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain.
  • Schlüter A; Division of Medical Genetics, Baylor Scott and White Health, Temple, Texas, USA.
  • Casas J; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Martínez JJ; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain.
  • Casasnovas C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Si Y; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain.
  • Thompson SS; RUBAM, Department of Biological Chemistry, IQAC-CSIC, Madrid, Spain.
  • Maroofian R; Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD) ISCIII 28029 Madrid, Spain.
  • Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Brain ; 143(9): e76, 2020 09 01.
Article in En | MEDLINE | ID: mdl-32889549
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary Limits: Humans Language: En Journal: Brain Year: 2020 Document type: Article Affiliation country: Spain Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary Limits: Humans Language: En Journal: Brain Year: 2020 Document type: Article Affiliation country: Spain Country of publication: United kingdom