Margot F. Mulder
Amsterdam University Medical Centers(NL)Vrije Universiteit Amsterdam(NL)Amsterdam UMC Location VUmc(NL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Hyperglycemia and glycemic control in critically ill and hospitalized patients, Neonatal Health and Biochemistry, Diet and metabolism studies
Most-Cited Works
- → Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans(2009)318 cited
- → Aminoacyl-tRNA synthetase deficiencies in search of common themes(2018)114 cited
- → Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes(2019)52 cited
- → Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients(2019)48 cited
- → ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies(2016)47 cited
- → Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey(2014)46 cited