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Human genetics --- Metabolic disorders in children --- Metabolism, Inborn errors of --- Metabolism --- Disorders --- METABOLISM, INBORN ERRORS --- IN INFANCY AND CHILDHOOD --- HANDBOOKS
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The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Metabolism, Inborn errors of. --- Metabolism, Inborn Errors. --- Metabolism. --- Metabolism, Inborn errors of --- Metabolism --- Diagnosis --- Metabolism, Inborn Errors --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Metabolic Diseases --- Genetic Diseases, Inborn --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Nutritional and Metabolic Diseases --- Diseases --- Metabolic & Nutritional Diseases --- Pediatrics --- Medicine --- Health & Biological Sciences --- Disorders --- Genetic aspects --- Medicine. --- Clinical sciences --- Medical profession --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Human genetics. --- General practice (Medicine). --- Internal medicine. --- Neurology. --- Pathology. --- Pediatrics. --- Medicine & Public Health. --- Internal Medicine. --- General Practice / Family Medicine. --- Human Genetics. --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Genetic disorders --- Family medicine. --- Genetics --- Heredity, Human --- Physical anthropology --- Disease (Pathology) --- Medicine, Preventive --- Nervous system --- Neuropsychiatry --- Family practice (Medicine) --- General practice (Medicine) --- Physicians (General practice) --- Medicine, Internal --- Paediatrics --- Pediatric medicine --- Children --- Health and hygiene --- Neurology .
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This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.
General practice (Medicine). --- Human Genetics. --- Medicine. --- Human genetics. --- Internal medicine. --- Neurology. --- Pathology. --- Pediatrics. --- Medicine & Public Health. --- Internal Medicine. --- General Practice / Family Medicine. --- Metabolism, Inborn errors of --- Diagnosis. --- Family medicine. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Disease (Pathology) --- Medical sciences --- Diseases --- Medicine --- Medicine, Preventive --- Nervous system --- Neuropsychiatry --- Family practice (Medicine) --- General practice (Medicine) --- Physicians (General practice) --- Medicine, Internal --- Paediatrics --- Pediatric medicine --- Children --- Health and hygiene --- Neurology .
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In this practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights clinicians need to confidently diagnose and manage pediatric patients. This full-color resource guides readers through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields.
Children. --- Newborn infants. --- Endocrine glands --- Metabolism, Inborn errors of. --- Endocrine System Diseases --- Child --- Metabolism, Inborn Errors --- Infant --- Diseases.
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Bewährt als verlässliches Standardwerk für Kinder- und Jugendärzte in Klinik und Praxis, präsentiert die 4. Auflage lückenlos das gesamte aktuelle Wissen der Pädiatrie in grundlegender Überarbeitung. Der Erfahrungsschatz des neuen Herausgeberteams und von über 300 renommierten Autoren sorgt für exzellente didaktische und inhaltliche Qualität des Werks. Übersichtlich, prägnant und klar dargestellt sind sämtliche allgemeinen Themen der Kinderheilkunde und alle erdenklichen Erkrankungen bis hin zu seltenen Krankheiten. Band 1 präsentiert übergreifende Themen wie Prävention, Genetik, Ernährung, Immunologie, Infektionskrankheiten, Pränatale Medizin, Notfall- und Intensivmedizin und Pharmakotherapie. In Band 2 sind alle organspezifischen Krankheiten systematisch dargestellt, von den blutbildenden Organen über die Atmungsorgane bis zu Erkrankungen der Nervensystems und der Haut. Zusätzlich ist die seelische Entwicklung mit ihren Störungen dargestellt. Eingängige Übersichten und instruktive Abbildungen machen das Werk anschaulich, ergänzendes Bildmaterial ist online verfügbar. Knappe Literaturangaben geben die wichtigsten Übersichtsarbeiten zu jedem der pädiatrischen Themen und Spezialgebiete an. Plus: Ein umfangreicher Online-Anhang bietet u.a. eine Übersicht über die Interaktion von Arzneimitteln in der Kinder- und Jugendmedizin.
Pediatrics. --- General practice (Medicine). --- Internal medicine. --- General Practice / Family Medicine. --- Internal Medicine.
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