Disorders of Steroidogenesis

Disorders of Steroidogenesis

Guide to Steroid Profiling and Biochemical Diagnosis

Woodward, Gary M.; Rumsby, Gill

Springer International Publishing AG

10/2018

197

Dura

Inglês

9783319963631

15 a 20 dias

553


ebook

Descrição não disponível.
Chapter 1: Overview of Adrenal Physiology and Steroid Biochemistry.- Chapter 2: Overview of Adrenocortical Pathophysiology.- Chapter 3: Steroid Profiling - Analytical Perspectives.- Chapter 4: 21-Hydroxylase Deficiency.- Chapter 5: 11?-Hydroxylase deficiency.- Chapter 6: 3b-Hydroxysteroid Dehydrogenase/isomerase Deficiency.- Chapter 7: 17a-Hydroxylase Deficiency.- Chapter 8: Early defects of Steroidogenesis: Steroidogenic acute regulatory protein and cholesterol 20-22 lyase deficiency.- Chapter 9: Aldosterone Synthase Deficiency.- Chapter 10: 17?-Hydroxysteroid Dehydrogenase Deficiency.- Chapter 11: Steroid 5 ?-Reductase Deficiency.- Chapter 12: 11?-Hydroxysteroid Dehydrogenase Deficiency.- Chapter 13: Steroid Sulphotransferase and Sulphatase Deficiency.- Chapter 14: Cholesterol Synthesis Defects.- Chapter 15: Steroid Producing Tumours.- Chapter 16: Cushing's syndrome.- Chapter 17: Adrenal insufficiency.- Appendix 1. Common Steroid Identification - GC-MS Mass Spectra.
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Steroidogenesis;Steroid Profiling;Biochemical Diagnosis;Congenital disorders;Adrenal pathologies