Book Description
Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.
Author : Dawn Laney
Publisher :
Page : 0 pages
File Size : 16,54 MB
Release : 2009-09-06
Category : Chronically ill children
ISBN : 9781439245842
Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.
Author : Joe Lezama
Publisher : Springer Nature
Page : 286 pages
File Size : 36,35 MB
Release :
Category :
ISBN : 3031575466
Author : Deborah Elstein
Publisher : Springer Science & Business Media
Page : 525 pages
File Size : 49,10 MB
Release : 2010-08-02
Category : Medical
ISBN : 9048190339
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 : Reza Karimi
Publisher : Jones & Bartlett Publishers
Page : 1056 pages
File Size : 17,73 MB
Release : 2014-01-29
Category : Medical
ISBN : 1449621104
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
Author : Deslie Quinby
Publisher :
Page : 28 pages
File Size : 23,97 MB
Release : 2014-10-14
Category :
ISBN : 9780692310380
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.
Author : U.S. Global Change Research Program
Publisher : Cambridge University Press
Page : 193 pages
File Size : 36,34 MB
Release : 2009-08-24
Category : Business & Economics
ISBN : 0521144078
Summarizes the science of climate change and impacts on the United States, for the public and policymakers.
Author : Joe T. R. Clarke
Publisher : Cambridge University Press
Page : 360 pages
File Size : 12,63 MB
Release : 2005-12-08
Category : Medical
ISBN : 1139447181
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.
Author : Lewis P. Rowland
Publisher :
Page : 348 pages
File Size : 50,69 MB
Release : 2001
Category :
ISBN :
Author : Stanley Maloy
Publisher : Academic Press
Page : 4360 pages
File Size : 41,6 MB
Release : 2013-03-03
Category : Science
ISBN : 0080961568
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
Author : Abigail Carbone
Publisher :
Page : 42 pages
File Size : 20,74 MB
Release : 2014
Category :
ISBN : 9780615947105
The Long Road to Fabry is a fun and informative book written by Abigail Carbone, a teenager with a rare genetic disorder. It is simple yet provides a very accurate and much needed child's perspective of Fabry's disease, that will appeal to both young and old. There is a need for educational material that can raise awareness about rare disorders such as Fabry disease. The real life diagnostic journey of Abigail outlined in this book will hopefully help other children with Fabry disease from feeling alone and isolated, and help their friends and others better understand the challenges that our patients have to go through. Amel Karaa, MD. Geneticist at Massachusetts General hospital. Lysosomal storage disorders Program. All profits will go to the Lysosomal Storage Disorders Program at Massachusetts General Hospital.