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Genetic steroid disorders /
This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendo...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London :
Academic Press,
2014.
|
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 245 | 0 | 0 | |a Genetic steroid disorders / |c edited by Maria I. New [and others]. |
| 260 | |a London : |b Academic Press, |c 2014. | ||
| 300 | |a 1 online resource (xiii, 392 pages, 16 unnumbered pages of plates) : |b color illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 588 | 0 | |a Print version record. | |
| 520 | |a This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder. Provides a common language for professionals to discuss and diagnose genetic steroid disorders. Includes the very latest details on genetic tests and diagnoses. Offers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders. Presents insight into which medications to use based on the genetic makeup of a patient. Teaches the best strategies and most effective use of genetic information in the patient counseling setting. | ||
| 504 | |a Includes bibliographical references at the end of each chapters and index. | ||
| 505 | 0 | |a Front Cover; Genetic Steroid Disorders; Copyright; Dedication; Contents; Preface; Contributors; Chapter 1 -- Introduction; References; Chapter 2 -- Adrenal Development; INTRODUCTION; ADRENAL ORGANOGENESIS; MOLECULAR MECHANISMS THAT REGULATE ADRENAL DEVELOPMENT; ADRENAL DISEASES; References; Chapter 3A -- Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency; INTRODUCTION; ENDOCRINE FUNCTION OF THE ADRENAL CORTEX; THE ADRENAL CORTEX AS TWO GLANDS; PATHOGENESIS OF 21-HYDROXYLASE DEFICIENCY; CLASSICAL CAH; NON-CLASSICAL CAH; DIAGNOSIS (HORMONAL AND GENETIC) | |
| 505 | 8 | |a MOLECULAR MECHANISMS CREATING CYP21A2 GENETIC DEFECTSCLINICAL FEATURES; TREATMENT; PRENATAL DIAGNOSIS AND TREATMENT; References; Chapter 3B -- The History of Prenatal Diagnosis of Congenital Adrenal Hyperplasia; INTRODUCTION; HORMONAL MEASUREMENTS IN AMNIOTIC FLUID; MOLECULAR GENETICS; DEXAMETHASONE TREATMENT AND CONTROVERSY; NON-INVASIVE PRENATAL DIAGNOSIS; FETAL SEX DETERMINATION; FUTURE DIRECTIONS; SUMMARY; References; Chapter 3C -- Growth Hormone Therapy to Improve Adult Height in Patients with Congenital Adrenal Hyperplasia; INTRODUCTION; ADULT HEIGHT IN CAH | |
| 505 | 8 | |a Chapter 3G -- Genetic Deficiencies of Cytochrome P450c17 (CYP17A1): Combined 17-Hydroxylase/17,20-Lyase Deficiency and Isolated 17,20-Lyase DeficiencySTRUCTURE OF THE GENE AND MAPPING IN THE HUMAN GENOME; GENETIC DEFECTS -- MUTATION; HORMONAL ABNORMALITIES; DIAGNOSIS BASED ON STRUCTURE OF THE GENE AND MUTATIONS; EPIDEMIOLOGY; ETHNIC DIVERSITY AND CLUSTERS OF THE DEFECT; PSYCHOENDOCRINE ABNORMALITIES RESULTING FROM THE ENZYMATIC DEFECT; TREATMENT: MEDICAL AND SURGICAL; LONG-RANGE OUTCOME: MEDICAL AND PSYCHOLOGICAL (GENDER, COGNITION); LIFE CAREERS; PRISMATIC CASES | |
| 546 | |a English. | ||
| 650 | 0 | |a Endocrine glands |x Diseases. | |
| 650 | 0 | |a Steroids. | |
| 650 | 1 | 2 | |a Endocrine System Diseases |0 (DNLM)D004700 |
| 650 | 2 | 2 | |a Steroids |0 (DNLM)D013256 |
| 650 | 6 | |a Glandes endocrines |x Maladies. |0 (CaQQLa)201-0009870 | |
| 650 | 6 | |a St�ero�ides. |0 (CaQQLa)201-0023586 | |
| 650 | 7 | |a HEALTH & FITNESS |x Diseases |x General. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Clinical Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Diseases. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Evidence-Based Medicine. |2 bisacsh | |
| 650 | 7 | |a MEDICAL |x Internal Medicine. |2 bisacsh | |
| 650 | 7 | |a Steroids |2 fast |0 (OCoLC)fst01133274 | |
| 650 | 7 | |a Endocrine glands |x Diseases |2 fast |0 (OCoLC)fst00909726 | |
| 650 | 7 | |a Health and Wellbeing. |2 ukslc | |
| 700 | 1 | |a New, Maria I., |d 1928- |e editor. | |
| 776 | 0 | 8 | |i Print version: |t Genetic steroid disorders. |d London : Elsevier, AP, Academic Press is an imprint of Elsevier, [2014] |z 0124160069 |w (OCoLC)863145703 |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780124160064 |z Texto completo |