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  • Genetic Diagnosis of Endocrine Disorders: Clinical and Laboratory Aspects

    Genetic Diagnosis of Endocrine Disorders by Weiss, Roy E.; Refetoff, Samuel;

    Clinical and Laboratory Aspects

    Series: Advances in Protein Chemistry and Structural Biology; 75;

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      • Publisher's listprice EUR 86.95
      • The price is estimated because at the time of ordering we do not know what conversion rates will apply to HUF / product currency when the book arrives. In case HUF is weaker, the price increases slightly, in case HUF is stronger, the price goes lower slightly.

        36 062 Ft (34 345 Ft + 5% VAT)
      • Discount 10% (cc. 3 606 Ft off)
      • Discounted price 32 456 Ft (30 911 Ft + 5% VAT)

    36 062 Ft

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    Product details:

    • Publisher Elsevier Science
    • Date of Publication 3 June 2010

    • ISBN 9780123744302
    • Binding Hardback
    • No. of pages336 pages
    • Size 276x216 mm
    • Weight 1220 g
    • Language English
    • 0

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    Long description:

    "Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the ""bench to bedside"" approach of our understanding of the genetic basis for endocrine disease. Itï¿1⁄2is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia?

    The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases.

    "

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    Table of Contents:

    Introduction
    Pancreas
    Type 1 Diabetes Mellitus
    MODY
    Type 2 - Diabetes Mellitus
    Obesity
    Growth Hormones
    Pituitary
    Functional Adenomas
    Posterior Pituitary
    Thyroid
    Congenital Hypothyroidism
    Resistance Syndromes
    Thyroid Cancer
    Parathyroid and Bone
    Adenomas
    Cancer
    Metabolic Bone Diseases
    Vitamin D Disorders
    Adrenal
    Congenital Adrenal Hyperplasias
    Adrenal tumors and cancers
    Pheos and MEN II
    Reproductive
    Ovarian Disease
    Hypogonadism
    Sexual Differentiation and Puberty
    Genetic Counseling for the Endocrinologists
    Pharmacogenomics and Endocrine Disease
    Setting up an Endocrine Genetic Laboratory
    Tables of Oligos and Diseases

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