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Cognitive Neuropsychology|December 7, 2017
Cognitive and behaviour profiles of children with mucopolysaccharidosis Type IILouise Crowe, Joy Yaplito-Lee, Vicki Anderson, et al.
Physical & Occupational Therapy in Pediatrics|January 1, 2003
The effect of therapeutic horseback riding on gross motor function and gait speed in children who are developmentally delayedPatricia Winchester, Kyla Kendall, Heidi Peters, et al.
Internal Medicine Journal|November 19, 2020
Treatable lysosomal storage diseases in the advent of disease-specific therapyHeidi Peters, Carolyn Ellaway, Kathleen Nicholls, et al.
Paediatric Anaesthesia|March 3, 2012
A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidosesGeoff Frawley, Daniella Fuenzalida, Susan Donath, et al.
Plos One|October 2, 2012
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locusNicole E Buck, Harriet Dashnow, James J Pitt, et al.
Pediatric Neurology|October 18, 2011
Alpers syndrome with mutations in POLG: clinical and investigative featuresMatthew F Hunter, Heidi Peters, Renato Salemi, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
Molecular Genetics and Metabolism|April 16, 2008
Newborn screening for glutaric aciduria type I in Victoria: treatment and outcomeAvihu Boneh, Miriam Beauchamp, Maureen Humphrey, et al.
JIMD Reports|December 26, 2024
Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot studyLucas Agnoletto, Moya Vandeleur, Mary White, et al.
Developmental Medicine and Child Neurology|August 14, 2013
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment methodMichiel A van Werkhoven, John A Duley, Ivan McGown, et al.
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