The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

by Fátima Lopes, Fátima Lopes, Fátima Torres, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel, Patrícia Maciel
Published 2019-02-01

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

by Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG
Published 2016-09-01

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

by Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2019-10-01

Can untreated PKU patients escape from intellectual disability? A systematic review

by Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2018-08-01