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020 _a9783319963648
024 7 _a10.1007/978-3-319-96364-8
_2doi
040 _bspa
_cES-MaUEC
_dES-MaUEC
050 4 _a RC648
_b.D57 2019 EB
245 0 0 _aDisorders of Steroidogenesis :
_bGuide to Steroid Profiling and Biochemical Diagnosis
_cedited by Gill Rumsby, Gary M. Woodward
264 1 _aCham
_bSpringer International Publishing :
_bImprint: Springer
_c2019
300 _a1 recurso en línea (VIII, 197 páginas 135 ilustraciones, 95 ilustraciones a color)
336 _2rdacontent
_aTexto (visual)
_btxt
337 _2rdamedia
_aelectrónico
_bc
338 _2rdacarrier
_arecurso electrónico
_bcr
347 _atext file
_bPDF
_2rda
490 0 _aMedicine (Springer-11650)
505 0 _aChapter 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: 11β-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: 17β-Hydroxysteroid Dehydrogenase Deficiency -- Chapter 11: Steroid 5 α-Reductase Deficiency -- Chapter 12: 11β-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.
520 3 _aThis book covers the subject of steroid profiling for the diagnosis of disorders of steroidogenesis. Each chapter provides at least one case study for each of the listed disorders in order to illustrate the subtle and nuanced details required for the diagnosis of these conditions. General information is also given about the biology of these disorders and explanations of typical laboratory findings are provided. This book describes the steroid profile features and its interpretation, in addition to describing the pathophysiology, clinical indications for investigation, general endocrine investigations and genetic considerations for each of the congenital and acquired conditions. A valuable tool for day-to-day clinical and laboratory investigations of adrenal pathologies and disorders of steroidogenesis, as well as providing impetus to further study.
650 7 _2embne
_9169362
_aGlándulas endocrinas
_xEnfermedades
650 7 _2embne
_9670083
_aHormonas esteroides
700 1 _aRumsby, Gill.
_eeditor literario
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aWoodward, Gary M.
_eeditor literario
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
_9106937
776 0 8 _iPrinted edition:
_z9783319963631
776 0 8 _iPrinted edition:
_z9783319963655
776 0 8 _iPrinted edition:
_z9783030071813
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-96364-8
_zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
942 _2lcc
_cLE
998 _db
_zSI