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Lathosterolosis

Also Known As:
3-beta-hydroxysteroid-delta(5)-desaturase deficiency; Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase
Networked: 16 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Porter, Forbes D: 7 articles (01/2011 - 04/2003)
2. Wassif, Christopher A: 4 articles (07/2010 - 04/2003)
3. Rossi, Massimiliano: 3 articles (07/2015 - 10/2002)
4. Andria, Generoso: 3 articles (07/2015 - 10/2002)
5. Parenti, Giancarlo: 3 articles (07/2015 - 10/2002)
6. Herman, Gail E: 2 articles (01/2011 - 04/2003)
7. Rivasi, Francesco: 2 articles (01/2005 - 10/2002)
8. Corso, Gaetano: 2 articles (01/2005 - 10/2002)
9. Brunetti-Pierri, Nicola: 2 articles (01/2005 - 10/2002)
10. Ferrari, Paola: 2 articles (01/2005 - 10/2002)

Related Diseases

1. Smith-Lemli-Opitz Syndrome
2. Chondrodysplasia Punctata (Stippled Epiphyses)
01/01/2013 - "Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal disorders, Conradi-Hünermann-Happle syndrome and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD), and at least three extremely rare autosomal recessive disorders, Greenberg skeletal dysplasia, lathosterolosis, and desmosterolosis. "
09/01/2006 - "Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. "
04/01/2003 - "Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia. "
01/01/2011 - "Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome."
12/01/2003 - "These include desmosterolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM dysplasia), and some cases of Antley-Bixler syndrome. "
3. Exfoliative Dermatitis (Erythroderma)
4. Mental Retardation (Idiocy)
5. Liver Diseases (Liver Disease)

Related Drugs and Biologics

1. Cholesterol
2. Antley-Bixler syndrome
3. Squalene
4. lathosterol delta-5-dehydrogenase (lathosterol oxidase)
5. HEM dysplasia
6. Transferases
7. Oxidoreductases
8. Carrier Proteins (Binding Protein)
9. X-linked dominant Chondrodysplasia punctata 2
10. Greenberg dysplasia

Related Therapies and Procedures

1. Liver Transplantation