Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemiaDavid C. Rees, Gordon W. Stewart, Michael Makris et al.|British Journal of Haematology|2005Cited by 163
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasisViktor Kožich, Péter Nagy, Bernd Schwahn et al.|Redox Biology|2022Cited by 35
Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin DiseasesMelissa Riachi, Veronica A. Kinsler, Dale Bryant et al.|Journal of Investigative Dermatology|2025Cited by 2
ESDR262 - The Role of Cholesterol in Rare Inflammatory Skin DiseaseMelissa Riachi, James McRae, Satyamaanasa Polubothu et al.|Unknown|2022Cited by 0