Iris Marquardt
Carl von Ossietzky Universität Oldenburg(DE)Klinikum Oldenburg(DE)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Genomics and Rare Diseases, Trace Elements in Health
Most-Cited Works
- → Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism(1994)418 cited
- → A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening(2004)166 cited
- → GAMT deficiency(2006)157 cited
- → Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases(2016)157 cited
- → Newborn screening: A disease‐changing intervention for glutaric aciduria type 1(2018)106 cited
- → Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin(2012)101 cited