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Can I read Genetic Diseases of Vitamin D Metabolizing Enzymes on EtoBox?
Genetic Diseases of Vitamin D Metabolizing Enzymes by Glenville Jones; Marie Laure Kottler; Karl Peter Schlingmann is a Medicine article available to read on EtoBox.
What is Genetic Diseases of Vitamin D Metabolizing Enzymes about?
This review presents current knowledge of the key activating and inactivating cytochrome P450 (CYP)-containing enzymes involved in vitamin D metabolism in mammals. The case for mutations of vitamin D 3 -25-hydroxylase/CYP2R1 associated with vitamin D-dependent rickets (VDDR), type 1B, is presented. The case for mutations of 25-hydroxyvitamin D 3 -1a-hydroxylase/CYP27B1 associated with VDDR, type 1A, is presented. The case for mutations of 25-hydroxyvitamin D 3 -24-hydroxylase/CYP24A1 associated with idiopathic infantile hypercalcemia is presented. Symptoms, diagnosis, treatment, and management of VDDR and idiopathic infantile hypercalcemia are reviewed.
Who reads Genetic Diseases of Vitamin D Metabolizing Enzymes?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Glenville Jones; Marie Laure Kottler; Karl Peter Schlingmann
- Publisher
- Elsevier BV
- Published
- 2017
- Language
- EN
- Field
- Medicine (Health Sciences)
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