Neurology of Hereditary Metabolic Diseases of Children: Third Edition more books like this

by Gilles Lyon, Edwin H Kolodny, Gregory M Pastores

In this new edition, the author explains the distinctions between hereditary metabolic diseases and other diseases of the child's nervous system. The text features state-of-the-art coverage of symptomatic treatment, enzyme replacement therapy, and guidelines for the prevention of disease.

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The Metabolic basis of inherited disease more books like this

by John B. Stanbury

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first editions | SVS

A Clinical Guide to Inherited Metabolic Diseases more books like this

by Joe T Clarke

This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory ...

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Genetic Biochemical Disorders more books like this

by Philip F Benson, Anthony H Fensom (Photographer)

The very rapid advances in biochemical technology recently have helped identify the basic defect in about 250 genetic disorders. Early precide diagnosis is essential before therapy can be identified which will lead to survival and normal development. This book describes clinical, pathological, and biochemical features, diagnostic methodology, and ...

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Atlas of Metabolic Diseases more books like this

by William L Nyhan, Pinar T Ozand

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, ...

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Neurology of Hereditary Metabolic Diseases of Children more books like this

by Raymond D Adams

From the author of "Principles of Neurology", this guide is organized by age group, from the neonate to late childhood, and presents systematic, clinical methodology to the diagnosis and management of this difficult and often baffling group of disorders. Raymond Adams explains the distinctions between hereditary metabolic diseases and other ...

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Inherited Metabolic Diseases more books like this

by Georg F Hoffmann, Johannes Zschocke, Ertan Mayatepek

This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, ...

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Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases more books like this

by Nenad Blau (Editor), N Blail, Marinus Duran (Editor)

This is a physician's guide to laboratory methods for diagnosis of metabolic disease - normal valves, abnormal valves, biochemical pathways, clinical features, treatment - presented largely in the form of charts and diagrams. It will help them decide which tests to order and how to interpret them. The work should be of interest to paediatricians, ...

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Congential Metab Dis Infants more books like this

by Raul A Wapnir

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Pediatric Endocrinology and Inborn Errors of Metabolism more books like this

by Kyriakie Sarafoglu (Editor), Georg F Hoffmann (Editor), Karl S Roth (Editor)

Using an innovative, user-friendly approach, the editors and a team of internationally known contributors provide clear, comprehensive, and practical guidance on the diagnosis and management of endocrine and metabolic disorders in children. Readers will find expert coverage of the principles of assessing signs and symptoms, concise clinical ...

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The Metabolic Basis of Inherited Disease more books like this

by Charles R Scriver, W L Sly, Arthur L Beaudet

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Genetic/Metabol Dis Ped more books like this

by June K Lloyd

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first editions

Heritable Disorders of Amino Acid Metabolism: Patterns of Clinical Expression and Genetic Variation more books like this

by William L Nyhan

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signed copies

The human adipose cell: a model for errors in metabolic regulation more books like this

by David J. Galton

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signed copies | first editions

Inborn Errors of Metabolism: Report of a Symposium on the Relation Between Developmental Biochemistry and Inborn Errors of Metabolism more books like this

by Frits A Hommes

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Genetic and Metabolic Deafness more books like this

by Bruce W Konigsmark

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first editions

Amino Acid Metabolism and Its Disorders more books like this

by Charles R Scriver

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first editions

Genetic & Malformation Syndromes in Clinical Medicine more books like this

by William L. Nyhan, Nadia O. Sakati

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first editions

The Metabolic & Molecular Bases of Inherited Disease, 1 more books like this

by Charles R Scriver

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Screening and Management of Potentially Treatable Genetic Metabolic Disorders more books like this

by P F Benson (Editor), Commission of the European Communities

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Lysosomes and Storage Diseases, more books like this

by H G Hers

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first editions

Genetic and Metabolic Eye Disease more books like this

by Dr. Morton F Goldberg

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first editions

Inborn Errors of Metabolism more books like this

by Jurgen Schaub, Nestl E Nutrition Sa, H. L. Vis

This addresses one of the major challenges of medicine: the diagnosis, treatment and prevention of inherited metabolic diseases. Experts in clinical practice and research provide an overview of all aspects of these genetic disorders, elucidating the underlying mechanisms and highlighting progress in antenatal diagnosis and therapy, genetic ...

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SVS

Nutritional Management of Genetic Disorders more books like this

by Myron Winick

A state-of-the-art review of nutrient metabolism and the nutritional management of genetic diseases. Leading authorities synthesize scientific data and the clinical management of patients. Provides an understanding of basic nutritional principles.

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first editions | SVS

Laboratory Techniques for the Detection of Hereditary Metabolic Disorders more books like this

by Vivian E. Shih

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first editions