Elisabeth Jameson

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Tobias Schwerd, Sumeet Pandey, Huei‐Ting Yang et al. · Gut · 2016 · 144 citations · Full text

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Bernd Schwahn, Francjan J. van Spronsen, Abdel Ali Belaidi et al. · The Lancet · 2015 · 138 citations

Medicine, Pharmacology, Prospective Cohort Study

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Julien Baruteau, Elisabeth Jameson, Andrew A. M. Morris et al. · Journal of Inherited Metabolic Disease · 2017 · 70 citations · Full text

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall et al. · Archives of Disease in Childhood · 2017 · 68 citations · Full text

Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I

Sarah Laraway, Jean Mercer, Elisabeth Jameson et al. · The Journal of Pediatrics · 2016 · 53 citations · Full text

Mucopolysaccharidosis Type, Long-term Treatment, Pathology +2