Julien H. Park

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

Trial of <i>N</i> -Acetyl- <scp>l</scp> -Leucine in Niemann–Pick Disease Type C

Tatiana Brémovà-Ertl, Uma Ramaswami, Marion M. Brands et al. · New England Journal of Medicine · 2024 · 96 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

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

Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects

Maria A. Rujano, M Serio, Ganna Panasyuk et al. · The Journal of Experimental Medicine · 2017 · 85 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

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