Shawn E. McCandless

University College Dublin — Ireland

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index2.5kcitations55works0.32yr avg
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Research Topics

Metabolism and Genetic Disorders(32), Mitochondrial Function and Pathology(12), Diet and metabolism studies(11), Biochemical and Molecular Research(9), Neonatal Health and Biochemistry(8)

Publications54 total

An obituary and tribute to Doug Kerr
Molecular Genetics and Metabolism·2025
Efficacy and safety results from a pivotal phase 3 trial of DTX401, an AAV8-mediated liver-directed gene therapy, in individuals with glycogen storage disease type Ia (GSDIa)
Endocrine Abstracts·2025
Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders
Pediatric Research·2023· 6 cited
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
Human Genetics·2021· 20 citedOpen Access
Urea Cycle Disorders in Children
Cambridge University Press eBooks·2021
Issue Information
Birth Defects Research·2020Open Access
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease·2019· 42 citedOpen Access
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
The American Journal of Human Genetics·2018· 105 citedOpen Access
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders
Molecular Genetics and Metabolism·2018· 10 citedOpen Access
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas
Molecular Genetics and Metabolism·2018· 58 cited
Inborn Errors of Metabolism with Acidosis
Pediatric Clinics of North America·2017· 26 cited
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency
Molecular Genetics and Metabolism·2017· 18 citedOpen Access
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years
Molecular Genetics and Metabolism·2017· 24 citedOpen Access
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
Molecular Genetics and Metabolism·2016· 16 cited
Glutamine and hyperammonemic crises in patients with urea cycle disorders
Molecular Genetics and Metabolism·2015· 39 citedOpen Access
Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate
Molecular Genetics and Metabolism Reports·2015· 7 citedOpen Access
Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers
Journal of Genetic Counseling·2015· 40 citedOpen Access
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Molecular Genetics and Metabolism·2015· 16 citedOpen Access
Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening
The Journal of Pediatrics·2015· 10 cited
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Genetics in Medicine·2014· 40 citedOpen Access
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Frequent Co-authors

George A. Díaz(16), Susan A. Berry(16), Uta Lichter‐Konecki(14), Cary O. Harding(14), Wendy E. Smith(12), Masoud Mokhtarani(11), Nicola Longo(11), Dion F. Coakley(11), Bruce F. Scharschmidt(11), Renata C. Gallagher(10), William J. Rhead(9), James Bartley(9), Annette Feigenbaum(9), Andreas Schulze(8), William Berquist(7), Jerry Vockley(7), Cynthia LeMons(6), Klara Dickinson(6), J. Lawrence Merritt(6), Stephen Cederbaum(5)