Marianne Grüneberg

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg et al. · The American Journal of Human Genetics · 2015 · 312 citations · Full text

Medicine, Genetics, Molecular Genetics +10

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Julien H. Park, Christiane Elpers, Janine Reunert et al. · Brain · 2019 · 88 citations · Full text

Life Sciences, Genetics, Neurology +17

A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG): molecular basis, clinical phenotype, and therapeutic approach

K Dörre, Mariusz Olczak, Yoshiro Wada et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

Life Sciences, Molecular Biology, Molecular Genetics +15

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Julien H. Park, Max Hogrebe, Manfred Fobker et al. · Genetics in Medicine · 2017 · 84 citations · Full text

Life Sciences, Biochemistry, Glycobiology +12

Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

R. Rossi, Sigrid Danzebrink, Katrin Linnenbürger et al. · Acta Paediatrica · 1994 · 49 citations

Medicine, Nephrology, Pediatrics +17