Inborn Errors of Development, Epstein, Charles J.; etc.
Старое издание
Автор: Epstein Название: Inborn Errors of Development.2003 ISBN: 019514502X ISBN-13(EAN): 9780195145021 Издательство: Oxford Academ Цена: 25344.00 р. Наличие на складе: Поставка под заказ. Описание: Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitu a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified.
Автор: Fernandes Название: Inborn Metabolic Diseases ISBN: 3540287833 ISBN-13(EAN): 9783540287834 Издательство: Springer Рейтинг: Цена: 21655.00 р. Наличие на складе: Поставка под заказ.
Описание: Emphasises clinical presentation and treatment in acute and chronic situation. This book contains a chapter on Neonatal screening by tandem MS/MS and includes several groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables.
Автор: Garg, Uttam Название: Biomarkers in Inborn Errors of Metabolism ISBN: 0128028963 ISBN-13(EAN): 9780128028964 Издательство: Elsevier Science Рейтинг: Цена: 13298.00 р. Наличие на складе: Поставка под заказ.
Описание:
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders.
With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation.
Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future.
Автор: Jean-Marie Saudubray; Matthias R. Baumgartner; Joh Название: Inborn Metabolic Diseases ISBN: 3662497697 ISBN-13(EAN): 9783662497692 Издательство: Springer Рейтинг: Цена: 25155.00 р. Наличие на складе: Поставка под заказ.
Описание: This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
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