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Download Genetic And Biochemical Studies On The Expression Of Lysosomal Enzymes In Cultured Human Fibroblasts full books in PDF, epub, and Kindle. Read online Genetic And Biochemical Studies On The Expression Of Lysosomal Enzymes In Cultured Human Fibroblasts ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
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ISBN 13 : 9780815332183
Total Pages : 0 pages
Book Rating : 4.3/5 (321 download)
Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Phillip Gerrit de Groot
Publisher :
ISBN 13 :
Total Pages : 126 pages
Book Rating : 4.:/5 (27 download)
Download or read book Genetic and Biochemical Studies on the Expression of Lysosomal Enzymes in Cultured Human Fibroblasts written by Phillip Gerrit de Groot and published by . This book was released on 1982 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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ISBN 13 :
Total Pages : 1588 pages
Book Rating : 4.:/5 (3 download)
Download or read book Research Awards Index written by and published by . This book was released on 1985 with total page 1588 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : National Institutes of Health (U.S.). Division of Research Grants
Publisher :
ISBN 13 :
Total Pages : 1224 pages
Book Rating : 4.3/5 (91 download)
Download or read book Research Grants Index written by National Institutes of Health (U.S.). Division of Research Grants and published by . This book was released on 1975 with total page 1224 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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ISBN 13 :
Total Pages : 1060 pages
Book Rating : 4.:/5 (319 download)
Download or read book Biomedical Index to PHS-supported Research written by and published by . This book was released on 1990 with total page 1060 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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ISBN 13 :
Total Pages : 1192 pages
Book Rating : 4.:/5 (319 download)
Download or read book Biomedical Index to PHS-supported Research: pt. A. Subject access A-H written by and published by . This book was released on 1992 with total page 1192 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : National Cancer Institute (U.S.)
Publisher :
ISBN 13 :
Total Pages : 456 pages
Book Rating : 4.3/5 (91 download)
Download or read book Subject Index of Current Extramural Research Administered by the National Cancer Institute written by National Cancer Institute (U.S.) and published by . This book was released on 1974 with total page 456 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides information concerning research grants and contracts supported by the National Cancer Institute.
Author : Kazuhiro Imai
Publisher : CRC Press
ISBN 13 : 9814316512
Total Pages : 314 pages
Book Rating : 4.8/5 (143 download)
Download or read book Quantitative Proteome Analysis written by Kazuhiro Imai and published by CRC Press. This book was released on 2013-08-05 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the advantages and disadvantages of each of the commonly used quantitative proteomic methods in terms of accuracy, sensitivity, and reproducibility. It also concentrates on the effective applications of these methods that resulted in many discoveries of the role of the proteins expressed in living cells and biological fluids. The first part of the book focuses on the description of advantages and disadvantages of each of the commonly used quantitative proteomic methods in terms of accuracy, sensitivity, and, especially, reproducibility. The second part of the book focuses on providing concise descriptions of the effective applications of these methods to demonstrate how they have resulted in many important discoveries of the roles of the proteins expressed in living cells.
Author : National Institute of General Medical Sciences (U.S.). Division of Research Grants
Publisher :
ISBN 13 :
Total Pages : 470 pages
Book Rating : 4.:/5 (319 download)
Download or read book Subject Index of Current Research Grants and Contracts Administered by the National Institute of General Medical Sciences written by National Institute of General Medical Sciences (U.S.). Division of Research Grants and published by . This book was released on 1976 with total page 470 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Mousumi Debnath
Publisher : Springer Science & Business Media
ISBN 13 : 9048132614
Total Pages : 527 pages
Book Rating : 4.0/5 (481 download)
Download or read book Molecular Diagnostics: Promises and Possibilities written by Mousumi Debnath and published by Springer Science & Business Media. This book was released on 2010-01-29 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.
Author : Deborah Elstein
Publisher : Springer Science & Business Media
ISBN 13 : 9048190339
Total Pages : 525 pages
Book Rating : 4.0/5 (481 download)
Download or read book Fabry Disease written by Deborah Elstein and published by Springer Science & Business Media. This book was released on 2010-08-02 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Author : Sara Mole
Publisher : OUP Oxford
ISBN 13 : 019101558X
Total Pages : 772 pages
Book Rating : 4.1/5 (91 download)
Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 772 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Author : Naoyuki Taniguchi
Publisher : Springer Science & Business Media
ISBN 13 : 4431678778
Total Pages : 668 pages
Book Rating : 4.4/5 (316 download)
Download or read book Handbook of Glycosyltransferases and Related Genes written by Naoyuki Taniguchi and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 668 pages. Available in PDF, EPUB and Kindle. Book excerpt: The so-called postgenomic research era has now been launched, and the field of gly cobiology and glycotechnology has become one of the most important areas in life science because glycosylation is the most common post-translational modification reaction of proteins in vivo. On the basis of Swiss-Prot data, over 50% proteins are known to undergo glycosylation, but in fact the actual functions of most of the sugar chains in the glycoconjugates remain unknown. The complex carbohydrate chains of glycoproteins, glycolipids, and proteoglycans represent the secondary gene products formed through the reactions of glycosyl transferases. The regulation of the biosynthesis of sugar chains is under the control of the expression of glycosyltransferases, their substrate specificity, and their local ization in specific tissue sites. There is a growing body of evidence to suggest that these enzymes play pivotal roles in a variety of important cellular differentiation and developmental events, as well as in disease processes. Over 300 glycosyltransferases appear to exist in mammalian tissues. If the genes that have been purified and cloned from various species such as humans, cattle, pigs, rats and mice are counted as one, approximately 110 glycogenes that encode glycosyltransferases and related genes have been cloned at present, and this number continues to grow each day. However, most of the functions of the glycosyltransferase genes and related genes are unknown. This fact has stimulated numerous new and interesting approaches in molecular biologi cal investigations.
Author : Ajit Varki
Publisher : CSHL Press
ISBN 13 : 9780879696818
Total Pages : 694 pages
Book Rating : 4.6/5 (968 download)
Download or read book Essentials of Glycobiology written by Ajit Varki and published by CSHL Press. This book was released on 1999 with total page 694 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.
Author : Kyriakie Sarafoglou
Publisher : McGraw Hill Professional
ISBN 13 : 0071811575
Total Pages : 966 pages
Book Rating : 4.0/5 (718 download)
Download or read book Pediatric Endocrinology and Inborn Errors of Metabolism written by Kyriakie Sarafoglou and published by McGraw Hill Professional. This book was released on 2012-09-01 with total page 966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines
