Susanne Greber‐Platzer

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 305 citations · Full text

Public Health, Endocrinology, Genetics +13

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

Thomas P. Mechtler, Thomas Metz, Víctor R. De Jesús et al. · The Lancet · 2012 · 298 citations

Public Health, Child Health, Pediatrics +16

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh et al. · The Lancet · 2022 · 207 citations · Full text

Life Sciences, Cardiology, Genetics +13

Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia

Raúl D. Santos, Andrea Ruzza, G. Kees Hovingh et al. · New England Journal of Medicine · 2020 · 190 citations · Full text

Pharmacy, Pediatrics, Pharmacotherapy +17

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 150 citations · Full text

Life Sciences, Genetics, Molecular Biology +13