Joe Learns about Fabry Disease PDF Download
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Author: Dawn Laney
Publisher:
ISBN: 9781439245842
Category : Chronically ill children
Languages : en
Pages : 0
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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:
ISBN: 9781439245842
Category : Chronically ill children
Languages : en
Pages : 0
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Book Description
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
ISBN: 3031575466
Category :
Languages : en
Pages : 286
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Book Description
Author: Deborah Elstein
Publisher: Springer Science & Business Media
ISBN: 9048190339
Category : Medical
Languages : en
Pages : 525
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Book Description
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
ISBN: 1449621104
Category : Medical
Languages : en
Pages : 1056
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Book Description
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:
ISBN: 9780692310380
Category :
Languages : en
Pages : 28
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Book Description
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
ISBN: 0521144078
Category : Business & Economics
Languages : en
Pages : 193
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Book Description
Summarizes the science of climate change and impacts on the United States, for the public and policymakers.
Author: Lewis P. Rowland
Publisher:
ISBN:
Category :
Languages : en
Pages : 348
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Book Description
Author: Charles Bazerman
Publisher:
ISBN: 9780299116941
Category : Technical writing
Languages : en
Pages : 0
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Book Description
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.
Author: Frederick J. Suchy
Publisher: Cambridge University Press
ISBN: 1139464035
Category : Medical
Languages : en
Pages : 995
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Book Description
Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
Author: Sara Mole
Publisher: OUP Oxford
ISBN: 019101558X
Category : Medical
Languages : en
Pages : 772
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Book Description
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.
