Helen Mundy

发表

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology.

Rishi Sharma, P. Gissen, S. Santra, 2022, medRxiv.

The incidence of movement disorders increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

J. Clayden, T. Kalber, S. Santra, 2023, bioRxiv.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop

T. Derks, S. Pendyal, S. K. Uçar, 2024, Molecular Genetics and Metabolism.