Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.

by Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
Published 2018-01-01

Improved Eating Behaviour and Nutrient Intake in Noncompliant Patients with Phenylketonuria after Reintroducing a Protein Substitute: Observations from a Multicentre Study

by Benjamin Green, Yusof Rahman, Sarah Firman, Sarah Adam, Fiona Jenkinson, Claire Nicol, Sandra Adams, Charlotte Dawson, Louise Robertson, Carolyn Dunlop, Alison Cozens, Gary Hubbard, Rebecca Stratton
Published 2019-08-01

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

by Stefan Coassin, Martina Schweiger, Anita Kloss-Brandstätter, Claudia Lamina, Margot Haun, Gertraud Erhart, Bernhard Paulweber, Yusof Rahman, Simon Olpin, Heimo Wolinski, Irina Cornaciu, Rudolf Zechner, Robert Zimmermann, Florian Kronenberg
Published 2010-12-01

A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemi...

by Colm J. McGinnity, Daniela A. Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Christopher Symeon, Helen Walker, Helen Walker, Sally F. Barrington, Mary Summers, Mervi Pitkanen, Mervi Pitkanen, Yusof Rahman
Published 2021-06-01

Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence

by Benjamin Green, Robert Browne, Sarah Firman, Melanie Hill, Yusof Rahman, Kit Kaalund Hansen, Sarah Adam, Rachel Skeath, Paula Hallam, Ide Herlihy, Fiona Jenkinson, Claire Nicol, Sandra Adams, Lisa Gaff, Sarah Donald, Charlotte Dawson, Louise Robertson, Carla Fitzachary, Heidi Chan, Arlene Slabbert, Carolyn Dunlop, Alison Cozens, Camille Newby, Victoria Bittle, Gary Hubbard, Rebecca Stratton
Published 2019-10-01

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

by Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Published 2019-12-01