Michael Muriello

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

Weiyi Mu, Michael Muriello, Julia Clemens et al. · American Journal of Medical Genetics Part A · 2019 · 70 citations · Full text

Public Health, Child Health, Pediatrics +16

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Eric Wallace, Özlem Göker-Alpan, William R. Wilcox et al. · Journal of Medical Genetics · 2023 · 43 citations · Full text

Medicine, Nephrology, Pharmacotherapy +17

Treatment of inpatient hyperglycemia beginning in the emergency department: A randomized trial using insulins aspart and detemir compared with usual care

Jennifer B. Bernard, Christina Munoz, Jaime Harper et al. · Journal of Hospital Medicine · 2011 · 29 citations

Medicine, Emergency Medicine, Pharmacotherapy +17

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

Francisco del Caño‐Ochoa, Bobby G. Ng, Malak Abedalthagafi et al. · Genetics in Medicine · 2020 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13