Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

by Katharina Iwan, Robert Clayton, Philippa Mills, Barbara Csanyi, Paul Gissen, Sara E. Mole, David N. Palmer, Kevin Mills, Wendy E. Heywood
Published 2021-02-01

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

by Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N. Waddington, Paul Gissen, Philippa Mills
Published 2019-11-01

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

by Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald
Published 2016-06-01

MAN1B1 deficiency: an unexpected CDG-II.

by Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs
Published 2013-01-01