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Hereditary Tyrosinemia
Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.
Who We Are Is Where We Are
Half a century ago, deindustrialization gutted blue-collar jobs in the American Midwest. But today, these places are not ghost towns. People still call these communities home, even as they struggle with unemployment, poverty, and other social and economic crises. Why do people remain in declining areas through difficult circumstances? What do their choices tell us about rootedness in a time of flux? Through the cases of the former steel manufacturing hub of southeast Chicago and a shuttered mining community in Iron County, Wisconsin, Amanda McMillan Lequieu traces the power and shifting meanings of the notion of home for people who live in troubled places. Building from on-the-ground observa...
Proceedings
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Wisconsin Waters
Every Wisconsin waterway has a story, from the Great Lakes and the Mighty Mississippi to thousands of interior lakes, rivers, and trout streams. Wisconsin Waters takes readers on an epic tour of the geologic, natural, and human stories that have shaped these aquatic landscapes over millions of years. In this companion to his popular Wisconsin State Parks book, Scott Spoolman journeys to the distant past to examine the origins of Wisconsin’s lakes, rivers, waterfalls, and wetlands. In his accessible storytelling style, Spoolman details the natural forces—volcanic eruptions, ancient seas, erosion, glaciers, and more—that created these bodies of water and the resulting habitats for the state’s flora, fauna, and early peoples. More than a geology or natural history book, Wisconsin Waters invites readers to visit waterways in four regions of the state, where they can view the modern-day evidence of how they were formed. Nineteen travel guides suggest ways to explore a selection of Wisconsin waterscapes, providing a better understanding of the land’s history that will enhance readers’ enjoyment of and appreciation for our freshwater resources.
Iowa's Geological Past
Iowa's rock record is the product of more than three billion years of geological processes. The state endured multiple episodes of continental glaciation during the Pleistocene Ice Age, and the last glacier retreated from Iowa a mere (geologically speaking) twelve thousand years ago. Prior to that, dozens of seas came and went, leaving behind limestone beds with rich fossil records. Lush coal swamps, salty lagoons, briny basins, enormous alluvial plains, ancient rifts, and rugged Precambrian mountain belts all left their mark. In "Iowa's Geological Past, " Wayne Anderson gives us an up-to-date and well-informed account of the state's vast geological history from the Precambrian through the e...
CIM Bulletin
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Atlas of Inherited Metabolic Diseases 3E
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, autho
