Publications by authors named "Yusof Rahman"

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Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant.
Ruth Frampton, David Lewis, Yusof Rahman, Michel Tchan, Jerry R Greenfield

Eur J Endocrinol· January 2025

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Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.
Xi May Zhen, Stephen M Twigg, Ted Wu, Eddy Tabet, Margaret J McGill, Yusof Rahman

Clin Diabetes Endocrinol· June 2024

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Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria.
Timothy Nicholas Fazio, Louise Healy, Tim Heise, Anita Inwood, Catherine Manolikos, Yusof Rahman

Mol Genet Metab Rep· December 2023

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Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, Kiera Batten, Katherine Lewis, Yusof Rahman

Nutrients· January 2023

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Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Yusof Rahman

J Inherit Metab Dis· September 2022

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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman

Orphanet J Rare Dis· November 2021

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A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia.
Colm J McGinnity, Daniela A Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Yusof Rahman

Front Neurosci· June 2021

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Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.
Mildrid Yeo, Charles Turner, Neil R Dalton, Yusof Rahman, Roshni Vara

Ann Clin Biochem· November 2020

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Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Yusof Rahman

Orphanet J Rare Dis· December 2019

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Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.
Benjamin Green, Robert Browne, Sarah Firman, Melanie Hill, Yusof Rahman

Nutrients· October 2019

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Liver neoplasms in methylmalonic aciduria: An emerging complication.
Patrick Forny, Michel Hochuli, Yusof Rahman, Maesha Deheragoda, Achim Weber

J Inherit Metab Dis· September 2019

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Improved Eating Behaviour and Nutrient Intake in Noncompliant Patients with Phenylketonuria after Reintroducing a Protein Substitute: Observations from a Multicentre Study.
Benjamin Green, Yusof Rahman, Sarah Firman, Sarah Adam, Fiona Jenkinson

Nutrients· August 2019

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Development and feasibility of the use of an assessment tool measuring treatment efficacy in patients with trimethylaminuria: A mixed methods study.
Krzysztof Rutkowski, Yusof Rahman, Mary Halter

J Inherit Metab Dis· March 2019

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Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman

PLoS One· March 2018

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Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC.
Helen Walker, Mervi Pitkanen, Yusof Rahman, Sally F Barrington

JIMD Rep· November 2017

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Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Julien Baruteau, Elisabeth Jameson, Andrew A Morris, Anupam Chakrapani, Saikat Santra, Yusof Rahman

J Inherit Metab Dis· May 2017

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Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.
Fadi Alkufri, Tim Harrower, Yusof Rahman, Elaine Hughes, Helen Mundy

Mov Disord· March 2013

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Creatine deficiency syndromes: diagnostic pearls and pitfalls.
Claire Hinnell, Michael Samuel, Fadi Alkufri, Keyoumars Ashkan, Yusof Rahman

Can J Neurol Sci· September 2011

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Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
Stefan Coassin, Martina Schweiger, Anita Kloss-Brandstätter, Claudia Lamina, Margot Haun, Yusof Rahman

PLoS Genet· December 2010

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Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.
Vanessa R Thurlow, Michelle Asafu-Adjaye, Stamatina Agalou, Yusof Rahman

Ann Clin Biochem· May 2010

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e-clinic: an electronic triage system for the management of type 2 Diabetes Mellitus.
Yusof Rahman, Thomas Knape, Mark Gargan, Gordon Power, Lucy Hederman

Stud Health Technol Inform· June 2005

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Early-onset insulin-resistant diabetes in obese Caucasians has features of typical type 2 diabetes, but 3 decades earlier.
Siobhan McQuaid, Donal J O'Gorman, Obada Yousif, Toh Peng Yeow, Yusof Rahman

Diabetes Care· May 2005

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