Iris Marquardt

Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism

Sylvia Stöckler, U. Holzbach, F. Hanefeld et al. · Pediatric Research · 1994 · 418 citations

Life Sciences, Neurology, Neuroscience +10

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Regina Ensenauer, Jerry Vockley, Jan-Marie Willard et al. · The American Journal of Human Genetics · 2004 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Children with multiphasic disseminated encephalomyelitis and antibodies to the myelin oligodendrocyte glycoprotein (MOG): Extending the spectrum of MOG antibody positive diseases

Matthias Baumann, Eva-Maria Hennes, Kathrin Schanda et al. · Multiple Sclerosis Journal · 2016 · 159 citations

Medicine, Neurology, Pediatrics +17

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 157 citations

Medicine, Neurology, Neuroscience +17

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Nikolas Boy, Katharina Mengler, Eva Thimm et al. · Annals of Neurology · 2018 · 110 citations · Full text

Medicine, Neurology, Pediatrics +15