Page last updated: 2024-08-24

lathosterol and Symptom Cluster

lathosterol has been researched along with Symptom Cluster in 4 studies

Research

Studies (4)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	1 (25.00)	18.2507
2000's	2 (50.00)	29.6817
2010's	1 (25.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
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, M	1
Andria, G; Annunziata, I; Ballabio, A; Balli, F; Brunetti-Pierri, N; Corso, G; Ferrari, P; Parenti, G; Rivasi, F; Rossi, M; Russo, AD	1
Herman, GE	1
Hofman, KJ; Kelley, RI; Rossiter, JP	1

Reviews

1 review(s) available for lathosterol and Symptom Cluster

Article	Year
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Human molecular genetics, 2003, Apr-01, Volume: 12 Spec No 1 Topics: Animals; Bone Diseases, Developmental; Cholesterol; Chondrodysplasia Punctata; Genetic Linkage; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Mice; Models, Biological; Models, Chemical; Smith-Lemli-Opitz Syndrome; Syndrome; X Chromosome	2003

Article

Year

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

Human molecular genetics, 2003, Apr-01, Volume: 12 Spec No 1

Topics: Animals; Bone Diseases, Developmental; Cholesterol; Chondrodysplasia Punctata; Genetic Linkage; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Mice; Models, Biological; Models, Chemical; Smith-Lemli-Opitz Syndrome; Syndrome; X Chromosome

2003

Other Studies

3 other study(ies) available for lathosterol and Symptom Cluster

Article	Year
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
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. American journal of medical genetics, 1995, Apr-10, Volume: 56, Issue:3 Topics: Amniotic Fluid; Cholesterol; Dehydrocholesterols; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Syndrome	1995