Joe Learns about Fabry Disease

Joe Learns about Fabry Disease

Author: Dawn Laney

Publisher:

Published: 2009-09-06

Total Pages: 0

ISBN-13: 9781439245842

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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.


Fabry Disease

Fabry Disease

Author: Deborah Elstein

Publisher: Springer Science & Business Media

Published: 2010-08-02

Total Pages: 525

ISBN-13: 9048190339

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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.


Biomedical & Pharmaceutical Sciences with Patient Care Correlations

Biomedical & Pharmaceutical Sciences with Patient Care Correlations

Author: Reza Karimi

Publisher: Jones & Bartlett Publishers

Published: 2014-01-29

Total Pages: 1056

ISBN-13: 1449621104

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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


What's Inside You Is Inside Me, Too

What's Inside You Is Inside Me, Too

Author: Deslie Quinby

Publisher:

Published: 2014-10-14

Total Pages: 28

ISBN-13: 9780692310380

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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.


A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases

Author: Joe T. R. Clarke

Publisher: Cambridge University Press

Published: 2005-12-08

Total Pages: 360

ISBN-13: 1139447181

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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.


Brenner's Encyclopedia of Genetics

Brenner's Encyclopedia of Genetics

Author: Stanley Maloy

Publisher: Academic Press

Published: 2013-03-03

Total Pages: 4360

ISBN-13: 0080961568

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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


Fit over 50

Fit over 50

Author: Walt Larimore

Publisher: Harvest House Publishers

Published: 2019-08-06

Total Pages: 237

ISBN-13: 0736977767

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Health, Fitness, and Weight Loss Advice You Can Trust To stay fit over 50, you don’t need to be an expert on health. You need essential, practical, and accurate information from people who are experts. Doctors Walt Larimore and Phillip Bishop want to give you truthful and trustworthy advice to help you separate fact from wishful thinking and to identify misconceptions when you see them. Take control of your overall well-being with tips to help improve your health in four key areas: Physical — learn proven principles for effective weight loss, exercise, and nutrition Emotional — keep your mind sharp and better manage your emotions Relational — stay connected to others and build a stronger sense of community Spiritual — improve your relationship with God When you apply these easy-to-follow and scientifically sound strategies, you're more likely to reap the many benefits of living well and staying healthy.