Martin Engvall

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 253 citations · Full text

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 133 citations · Full text

Hepatology, Methionine Cycle, Medicine +9

Rescue of primary ubiquinone deficiency due to a novel <i>COQ7</i> defect using 2,4–dihydroxybensoic acid

Christoph Freyer, Henrik Stranneheim, K Naess et al. · Journal of Medical Genetics · 2015 · 106 citations · Full text

Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain

Peter Blomstrand, Peter Sjöblom, Mats Nilsson et al. · Cardiovascular Diabetology · 2018 · 90 citations · Full text

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat, K Naess, Martin Engvall et al. · Journal of Inherited Metabolic Disease · 2020 · 73 citations · Full text