Page last updated: 2024-08-24

lathosterol and Abnormalities, Multiple

lathosterol has been researched along with Abnormalities, Multiple in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Amoroso, A; Baldi, M; Brunati, A; Calvo, PL; Carbonaro, G; Corso, G; David, E; Parenti, G; Pucci, A; Romagnoli, R; Rossi, M; Salizzoni, M; Spada, M1
Andria, G; Annunziata, I; Ballabio, A; Balli, F; Brunetti-Pierri, N; Corso, G; Ferrari, P; Parenti, G; Rivasi, F; Rossi, M; Russo, AD1

Other Studies

2 other study(ies) available for lathosterol and Abnormalities, Multiple

ArticleYear
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.
    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2014, Volume: 14, Issue:4

    Topics: Abnormalities, Multiple; Child, Preschool; Cholesterol; Female; Humans; Intellectual Disability; Liver Transplantation; Magnetic Resonance Imaging; Oxidoreductases Acting on CH-CH Group Donors; Prognosis; Steroid Metabolism, Inborn Errors; Syndrome

2014
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
    American journal of human genetics, 2002, Volume: 71, Issue:4

    Topics: Abnormalities, Multiple; Cholesterol; Humans; Infant; Intellectual Disability; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Syndrome

2002