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Inborn Metabolic Diseases: Diagnosis and Treatment

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Inborn Metabolic Diseases: Diagnosis and Treatment has for many years been considered a classic textbook, indispensable to those involved in the care of patients with inborn errors of metabolism, including paediatricians, clinical biochemists, neurologists, specialists in internal medicine, geneticists, dietitians, nurses and clinical psychologists. The 4th edition was published five years ago and sadly, since then, in 2009, John Fernandes, the early spiritual father, of the book, has died.

This new 5th edition has been extensively revised, but remains focused on the clinical symptoms and signs at presentation, the investigations necessary to reach a correct diagnosis and the management of specific disorders. We have also borne in mind the need to keep the book to a reasonable size. Two new chapters have been added; the first on the diagnostic approach to neurometabolic disorders in adulthood and the second on disorders of phospholipid and sphingolipid synthesis. All chapters from the 4th edition have been carefully updated, and some considerably extended; for example, the chapter on the transport of metals now includes iron, manganese and selenium transport disorders in addition to those of copper, zinc and magnesium. Chapter 1 has also been extended and now includes many genetic disorders affecting transporters, channels and enzymes implicated in the logistics and regulation of the cells, disorders which exemplify the bridge between classic metabolic diseases and those caused by structural proteins mutations.
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Learn to Program with Minecraft Plugins: Create Flaming Cows in Java Using CanaryMod
Learn to Program with Minecraft Plugins: Create Flaming Cows in Java Using CanaryMod

The first edition of this book used the Bukkit modding server and library, which was taken down due to a legal dispute in September 2014. This new edition has been completely revised to replace Bukkit with the CanaryMod library.

The bestselling, kid-tested book for Minecraft is now updated for CanaryMod! Write your own
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Word-Formation in English (Cambridge Textbooks in Linguistics)
Word-Formation in English (Cambridge Textbooks in Linguistics)
Providing an accessible introduction to the study of word-formation, this text focuses specifically on English. Assuming no prior linguistic knowledge, Ingo Plag explains the fundamentals of word-formation, demonstrating how morphemes--the elements of a word's internal structure--can function to relate words to other words, and to create new words....
Penetration Testing with Perl
Penetration Testing with Perl

Harness the power of Perl to perform professional penetration testing

About This Book

  • Write your own custom information security tools using Perl and object-oriented Perl modules
  • Apply powerful Perl Regular Expression syntax to finely tune intelligence gathering techniques
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Exploring Microsoft SharePoint 2013: New Features & Functions
Exploring Microsoft SharePoint 2013: New Features & Functions

Your guide to the most significant changes in SharePoint 2013.

Discover what’s new and what’s changed in SharePoint 2013—and get a head start using these cutting-edge capabilities to improve organizational collaboration and effectiveness.

Led by a Microsoft MVP for SharePoint, you'll learn how to...

Color Atlas of Pharmacology
Color Atlas of Pharmacology
In many countries, medicine is at present facing urgent political and economic calls for reform. These socioeconomic pressures notwithstanding, pharmacotherapy has always been an integral part of the health care system and will remain so in the future. Well-founded knowledge of the preventive and therapeutic value of...
Fairy Tales: A New History (Excelsior Editions)
Fairy Tales: A New History (Excelsior Editions)
Overturns traditional views of the origins of fairy tales and documents their actual origins and transmission.

Where did Cinderella come from? Puss in Boots? Rapunzel? The origins of fairy tales are looked at in a new way in these highly engaging pages. Conventional wisdom holds that fairy tales originated in the oral
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