M. Uudelepp

发表

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

K. Õunap, R. Žordania, K. Joost, 2011, Molecular genetics and metabolism.

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

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

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

K. Mills, P. Clayton, S. Heales, 2017, Analytical chemistry.

Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma

L. Hirst, M. Uudelepp, Gehan Abou-Ameira, 2021, Case reports in pediatrics.

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

K. Õunap, K. Kilk, R. Olsen, 2012, JIMD reports.

Smoking-Induced Expression of the GPR 15 Gene Indicates Its Potential Role in the Chronic 77 78 79 80 81 In fl ammatory Pathologies

P. Peterson, S. Kõks, E. Reimann, 2015 .

Smoking-induced expression of the GPR15 gene indicates its potential role in chronic inflammatory pathologies.

P. Peterson, S. Kõks, E. Reimann, 2015, The American journal of pathology.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

Rishi Sharma, P. Gissen, A. Chakrapani, 2023, Epilepsia.

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.