Shoshi Shpitzen

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 · 285 citations · Full text

Family Medicine, Metabolic Syndrome, Lipid Disorder +10

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr³²⁹ Ser mutation in the glycogen‐branching enzyme gene

Alexander Lossos, Zeev Meiner, V. Barash et al. · Annals of Neurology · 1998 · 127 citations

A Cholesterol-Lowering Gene Maps to Chromosome 13q

Hans Knoblauch, Bertram Müller‐Myhsok, Andreas Busjahn et al. · The American Journal of Human Genetics · 2000 · 94 citations · Full text

Chromatin, Genetics, Human Polymorphism +3

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Kanika Dharmayat, Antonio J. Vallejo‐Vaz, Christophe Stevens et al. · The Lancet · 2023 · 71 citations · Full text

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

Ann Båvner, Marjan Shafaati, Magnus Hansson et al. · Journal of Lipid Research · 2010 · 58 citations · Full text

Oxysterol, Medicine, Physiology +6