Earwax: A potentially useful medium to identify inborn errors of metabolism?

by Stefan Krywawych, Maureen Cleary, Mel McSweeney, Simon Heales
Published 2020-03-01

Clinical Genetics of Prolidase Deficiency: An Updated Review

by Marta Spodenkiewicz, Michel Spodenkiewicz, Maureen Cleary, Marie Massier, Giorgos Fitsialos, Vincent Cottin, Guillaume Jouret, Céline Poirsier, Martine Doco-Fenzy, Anne-Sophie Lèbre
Published 2020-05-01

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

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in...

by Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer, Alexandra Morrison, Elaine Murphy, Saikat Santra, James Jarrett, Swati Mukherjee, Karolina M. Stepien
Published 2021-01-01

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label...

by Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
Published 2021-08-01

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

by Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones
Published 2017-06-01