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Inborn Metabolic Diseases
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
Magnetic Resonance of Myelination and Myelin Disorders
Our thanks go to our colleagues at the VU Univer- Preface to the Third Edition sity Medical Center and to those in other hospitals Reading through the prefaces of the two previous edi- who referred their patients to us. We are indebted to tions,we can say that much of what was said there still all colleagues who allowed us to use their MR images, holds. At the same time,however,much has changed. published or unpublished,making it possible for us to There has been immense progress in the technical present illustrations of nearly all known white matter possibilities of magnetic resonance and in the know- disorders. Two colleagues were particularly helpful ledge of genetic defects, biochemical ...
Inborn Metabolic Diseases
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
Atlas of Metabolic Diseases Second edition
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 second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and...
Death Tracks the Scent
All-natural murder? Penelope Standing has a lot going on. Her dog walking business is booming, mail deliveries give her a great excuse to snoop, and her husband’s retirement party is shaping up to be an interesting affair. Then she finds Hippie Harold dead in his living room. At first glance it looks like botulism might be the cause. Penelope knows better. Town crank Howard Stone, proprietor of Homespun Harold’s All-Natural Emporium, had taught everyone how to safely can their fruits and vegetables for decades. Botulism? No way! But was arguing about organic food and recycling enough to get him killed? Penelope’s need to track down the truth may send a killer after her! *** Fans of the...
