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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Del Caño-Ochoa, Francisco; Ng, Bobby G; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A; Rosenfeld, Jill A; Freeze, Hudson H; Ramón-Maiques, Santiago.
Affiliation
  • Del Caño-Ochoa F; Genome Dynamics and Function Program, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain.
  • Ng BG; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III, Valencia, Spain.
  • Abedalthagafi M; Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain.
  • Almannai M; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
  • Cohn RD; Genomics Research Department, Saudi Human Genome Project, King Fahad Medical City and King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Costain G; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Elpeleg O; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Houlden H; Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Karimiani EG; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
  • Liu P; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Manzini MC; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Maroofian R; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Muriello M; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Al-Otaibi A; Department of Neuromuscular disorders, UCL Institute of Neurology University College, London, UK.
  • Patel H; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.
  • Shimon E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sutton VR; Baylor Genetics Laboratories, Houston, TX, USA.
  • Toosi MB; Department of Neuroscience and Cell Biology and Child Health Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
  • Wolfe LA; Department of Neuromuscular disorders, UCL Institute of Neurology University College, London, UK.
  • Rosenfeld JA; Department of Pediatrics/Division of Genetics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Freeze HH; Genomic Science and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Ramón-Maiques S; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Genet Med ; 22(10): 1598-1605, 2020 10.
Article in En | MEDLINE | ID: mdl-32461667
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate Carbamoyltransferase / Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: España Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate Carbamoyltransferase / Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: España Country of publication: Estados Unidos