Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study

por Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Publicado 2020

Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study

por Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Publicado 2020

Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome

por Alharby, Essa, Obaid, Mona, Elamin, Mohammed A.O., Almuntashri, Makki, Bakhsh, Ismail, Samman, Manar, Peake, Roy W.A., Alasmari, Ali, Almontashiri, Naif A.M.
Publicado 2021

EDTA Improves Stability of Whole Blood C-Peptide and Insulin to Over 24 Hours at Room Temperature

por McDonald, Timothy J., Perry, Mandy H., Peake, Roy W. A., Pullan, Nicola J., O’Connor, John, Shields, Beverley M., Knight, Beatrice A., Hattersley, Andrew T.
Publicado 2012

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

por Haskovic, Minela, Derks, Britt, van der Ploeg, Liesbeth, Trommelen, Jorn, Nyakayiru, Jean, van Loon, Luc J. C., Mackinnon, Sabrina, Yue, Wyatt W., Peake, Roy W. A., Zha, Li, Demirbas, Didem, Qi, Wanshu, Huang, Xiaoping, Berry, Gerard T., Achten, Jelle, Bierau, Jörgen, Rubio-Gozalbo, M. Estela, Coelho, Ana I.
Publicado 2018