Helen Mundy

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Tobias B. Haack, Robert Kopajtich, Peter Freisinger et al. · The American Journal of Human Genetics · 2013 · 147 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

<i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Monika Oláhová, Steven Hardy, Julie Hall et al. · Brain · 2015 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel starch for the treatment of glycogen storage diseases

Kaustuv Bhattacharya, R. C. Orton, Xin Qi et al. · Journal of Inherited Metabolic Disease · 2007 · 98 citations

Life Sciences, Biochemistry, Food Science +10

Liver transplantation for propionic acidemia in children

Roshni Vara, Charles Turner, Helen Mundy et al. · Liver Transplantation · 2011 · 88 citations · Full text

Medicine, Pediatrics, Surgery +17