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 content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

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

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.

This pocket atlas is an excellent reference work that presents pathologic findings in all clinically relevant fields, using high-quality photographs and concise, well-structured explanatory texts. Images include color photos and micrographs. Electron microscopic images are included where necessary. Clear schematic drawings illustrate procedures such as the course of infections, etc. Text boxes on clinical and morphological aspects, on complications, and with easy-to-remember mnemonic summaries are set off in color.

The pocket atlas is an excellent reference work that presents pathologic findings in all clinically relevant fields, using high-quality photographs and concise, well structured explanatory texts. Images include color photos and micrographs. Electron microscopic images are included where necessary. Clear schematic drawings illustrate procedures such as the course of infections, etc. Text boxes on clinical and morphological aspects, on complications, and with easy-to-remember mnemonic summaries are set off in color.

Focuses on the fact that diet plays a key role in many of the major causes of death and disability in the technologically developed world, including heart disease, hypertension, stroke, diabetes mellitus, obesity, cancer, gallstones, and diverticular disease. Discusses principles of diet and nutrition; diet, culture and disease; western lifestyle-related diseases; disorders of energy metabolism; vitamins in medicine; element, water and electrolyte deficiency and toxicity; food idiosyncracies; food toxicoses; conditions benefiting from nutritional support; diseases that are possible diet-related; etc.

Beautifully illustrated in full color, POTTER'S ATLAS OF FETAL AND INFANT PATHOLOGY addresses all aspects of pathology in the prenatal period and the first two years of life, including complicated pregnancies, spontaneous abortion, placental pathology, prenatal diagnosis of abnormalities, fetal/infant death, and all disorders affecting the full-term neonate. The atlas may be used as a complement to the major reference in the field, POTTER'S PATHOLOGY OF THE FETUS AND INFANT, or as a stand-alone book for the pathologist who requires only the most critical information. A concise, visual reference, the atlas contains over 1,000 color illustrations from the personal collections of leading pediatric pathologists. It's an essential resource for any pathologist who sees pediatric cases. Covers key aspects of fetal and infant pathology in a concise, efficient manner for general pathologists who see pediatric cases. Covers the entire field of fetal and infant pathology. Follows the organization of POTTER'S PATHOLOGY OF THE FETUS AND INFANT, so it may be used alone or as a color pictorial complement to the larger text. Includes over 1000 illustrations, most in color, to help pathologists make diagnoses based on visual clues.

A reference for identifying and diagnosing ocular manifestations of systemic disease. All ocular abnormalities associated with disorders of bodily systems are included and illustrated in colour. Sections feature such issues as diabetic eye disease and the recognition of drug abuse through the eye.

ACCURATELY DIAGNOSE PEDIATRIC CONDITIONS BY VISIBLE SIGNS AND INTERNAL IMAGING WITH THIS FULL-COLOR ATLAS The Color Atlas of Pediatrics features more than 1,800 full-color photographs to help you visually diagnose a wide variety of common and uncommon conditions and disorders spanning the entire pediatric spectrum. This superb collection of clinical images is supported by concise, evidence-based treatment recommendations presented in easy-to-apply bulleted text. Each chapter begins with a patient story that ties the photographs to real-life patients. Coverage for conditions includes: Epidemiology Etiology and Pathophysiology Risk Factors Diagnosis Differential Diagnosis Management Prevention Patient Education Strength of recommendation ratings are cited throughout, skillfully blending the art and science of medicine for optimal patient care.