Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.

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 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

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.

Summarizes the science of climate change and impacts on the United States, for the public and policymakers.

The forms taken by scientific writing help to determine the very nature of science itself. In this closely reasoned study, Charles Bazerman views the changing forms of scientific writing as solutions to rhetorical problems faced by scientists arguing for their findings. Examining such works as the early Philosophical Transactions and Newton's optical writings as well as Physical Review, Bazerman views the changing forms of scientific writing as solutions to rhetorical problems faced by scientists. The rhetoric of science is, Bazerman demonstrates, an embedded part of scientific activity that interacts with other parts of scientific activity, including social structure and empirical experience. This book presents a comprehensive historical account of the rise and development of the genre, and views these forms in relation to empirical experience.

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.

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.