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Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.
Book Synopsis Joe Learns about Fabry Disease by : Dawn Laney
Download or read book Joe Learns about Fabry Disease written by Dawn Laney and published by . This book was released on 2009-09-06 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.
Book Synopsis Internal Medicine Learning A to Z and 1, 2, 3 by : Joe Lezama
Download or read book Internal Medicine Learning A to Z and 1, 2, 3 written by Joe Lezama and published by Springer Nature. This book was released on with total page 286 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.
Book Synopsis Fabry Disease by : Deborah Elstein
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.
Every child, every person, every living thing is unique, in big part, due to chromosomes. Children with Down syndrome have an extra chromosome. this book informs people about Down syndrome in a fun illustrative way. In the process, it also explains chromosomes and their role in making every living thing special. A valuable tool for educators, siblings, individuals with Down syndrome, advocates and for those innately curious.
Book Synopsis What's Inside You Is Inside Me, Too by : Deslie Quinby
Download or read book What's Inside You Is Inside Me, Too written by Deslie Quinby and published by . This book was released on 2014-10-14 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt: Every child, every person, every living thing is unique, in big part, due to chromosomes. Children with Down syndrome have an extra chromosome. this book informs people about Down syndrome in a fun illustrative way. In the process, it also explains chromosomes and their role in making every living thing special. A valuable tool for educators, siblings, individuals with Down syndrome, advocates and for those innately curious.
Biomedical & Pharmaceutical Sciences with Patient Care Correlations provides a solid foundation in the areas of science that pharmacy students most need to understand to succeed in their education and career. Offering a comprehensive overview of the biomedical and pharmaceutical sciences, it is an ideal primary or secondary textbook for introductory courses. Students can also use this text to refresh their scientific knowledge before beginning graduate study. Biomedical & Pharmaceutical Sciences with Patient Care Correlations includes 16 chapters that cover subjects ranging from cell biology and medicinal chemistry to toxicology and biostatistics. It also includes clinical correlations and integrated cases. Practical as well as informative, this essential reference relates the subject matter to the real world of pharmacy practice to assist students throughout their graduate studies and professional careers. Features Provides a comprehensive introduction to the biomedical and pharmaceutical sciences curriculum Serves as an ideal text for all introductory pharmacy courses Covers the topics that are most challenging for students Relates science to the real world of pharmacy practice Includes over 525 illustrations, photos, and figures
Book Synopsis Biomedical & Pharmaceutical Sciences with Patient Care Correlations by : Reza Karimi
Download or read book Biomedical & Pharmaceutical Sciences with Patient Care Correlations written by Reza Karimi and published by Jones & Bartlett Publishers. This book was released on 2014-01-29 with total page 1056 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomedical & Pharmaceutical Sciences with Patient Care Correlations provides a solid foundation in the areas of science that pharmacy students most need to understand to succeed in their education and career. Offering a comprehensive overview of the biomedical and pharmaceutical sciences, it is an ideal primary or secondary textbook for introductory courses. Students can also use this text to refresh their scientific knowledge before beginning graduate study. Biomedical & Pharmaceutical Sciences with Patient Care Correlations includes 16 chapters that cover subjects ranging from cell biology and medicinal chemistry to toxicology and biostatistics. It also includes clinical correlations and integrated cases. Practical as well as informative, this essential reference relates the subject matter to the real world of pharmacy practice to assist students throughout their graduate studies and professional careers. Features Provides a comprehensive introduction to the biomedical and pharmaceutical sciences curriculum Serves as an ideal text for all introductory pharmacy courses Covers the topics that are most challenging for students Relates science to the real world of pharmacy practice Includes over 525 illustrations, photos, and figures
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Book Synopsis A Clinical Guide to Inherited Metabolic Diseases by : Joe T. R. Clarke
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Download or read book NINDS at 50 written by Lewis P. Rowland and published by . This book was released on 2001 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Summarizes the science of climate change and impacts on the United States, for the public and policymakers.
Book Synopsis Global Climate Change Impacts in the United States by : U.S. Global Change Research Program
Download or read book Global Climate Change Impacts in the United States written by U.S. Global Change Research Program and published by Cambridge University Press. This book was released on 2009-08-24 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt: Summarizes the science of climate change and impacts on the United States, for the public and policymakers.
Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Book Synopsis Liver Disease in Children by : Frederick J. Suchy
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
The explosion of the field of genetics over the last decade, with the new technologies that have stimulated research, suggests that a new sort of reference work is needed to keep pace with such a fast-moving and interdisciplinary field. Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set, builds on the foundation of the first edition by addressing many of the key subfields of genetics that were just in their infancy when the first edition was published. The currency and accessibility of this foundational content will be unrivalled, making this work useful for scientists and non-scientists alike. Featuring relatively short entries on genetics topics written by experts in that topic, Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set provides an effective way to quickly learn about any aspect of genetics, from Abortive Transduction to Zygotes. Adding to its utility, the work provides short entries that briefly define key terms, and a guide to additional reading and relevant websites for further study. Many of the entries include figures to explain difficult concepts. Key terms in related areas such as biochemistry, cell, and molecular biology are also included, and there are entries that describe historical figures in genetics, providing insights into their careers and discoveries. This 7-volume set represents a 25% expansion from the first edition, with over 1600 articles encompassing this burgeoning field Thoroughly up-to-date, with many new topics and subfields covered that were in their infancy or not inexistence at the time of the first edition. Timely coverage of emergent areas such as epigenetics, personalized genomic medicine, pharmacogenetics, and genetic enhancement technologies Interdisciplinary and global in its outlook, as befits the field of genetics Brief articles, written by experts in the field, which not only discuss, define, and explain key elements of the field, but also provide definition of key terms, suggestions for further reading, and biographical sketches of the key people in the history of genetics
Book Synopsis Brenner's Encyclopedia of Genetics by : Stanley Maloy
Download or read book Brenner's Encyclopedia of Genetics written by Stanley Maloy and published by Academic Press. This book was released on 2013-03-03 with total page 4360 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of the field of genetics over the last decade, with the new technologies that have stimulated research, suggests that a new sort of reference work is needed to keep pace with such a fast-moving and interdisciplinary field. Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set, builds on the foundation of the first edition by addressing many of the key subfields of genetics that were just in their infancy when the first edition was published. The currency and accessibility of this foundational content will be unrivalled, making this work useful for scientists and non-scientists alike. Featuring relatively short entries on genetics topics written by experts in that topic, Brenner's Encyclopedia of Genetics, Second Edition, Seven Volume Set provides an effective way to quickly learn about any aspect of genetics, from Abortive Transduction to Zygotes. Adding to its utility, the work provides short entries that briefly define key terms, and a guide to additional reading and relevant websites for further study. Many of the entries include figures to explain difficult concepts. Key terms in related areas such as biochemistry, cell, and molecular biology are also included, and there are entries that describe historical figures in genetics, providing insights into their careers and discoveries. This 7-volume set represents a 25% expansion from the first edition, with over 1600 articles encompassing this burgeoning field Thoroughly up-to-date, with many new topics and subfields covered that were in their infancy or not inexistence at the time of the first edition. Timely coverage of emergent areas such as epigenetics, personalized genomic medicine, pharmacogenetics, and genetic enhancement technologies Interdisciplinary and global in its outlook, as befits the field of genetics Brief articles, written by experts in the field, which not only discuss, define, and explain key elements of the field, but also provide definition of key terms, suggestions for further reading, and biographical sketches of the key people in the history of genetics
