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Inherited Metabolic Diseases: A Clinical Approach - Georg F. Hoffmann,William L. Nyhan,Johannes Zschocke,Georg F. (EDT) Hoffmann,Johannes (EDT) Zschocke
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Inherited Metabolic Diseases: A Clinical Approach - edition reliée, livre de poche

2010, ISBN: 3540747222

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Inherited Metabolic Diseases: A Clinical Approach Hoffmann, Georg F. Zschocke, Johannes and Nyhan, William L.:

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Hoffmann, Georg F. [Editor]; Zschocke, Johannes [Editor]; Nyhan, William L. [Editor];:
Inherited Metabolic Diseases: A Clinical Approach - edition reliée, livre de poche

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Editor-Georg F. Hoffmann; Editor-Johannes Zschocke; Editor-William L. Nyhan:
Inherited Metabolic Diseases: A Clinical Approach - edition reliée, livre de poche

2010, ISBN: 9783540747222

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Détails sur le livre
Inherited Metabolic Diseases: A Clinical Approach

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. TOC:Introduction to Inborn Errors of Metabolism.- Disorders of Intermediary Metabolism.- Disorders of the Biosynthesis and Breakdown of Complex Molecules.- Neurotransmitter Defects and Related Disorders.- Other Inborn Errors of Metabolism.- Approach to the Patient with Metabolic Disease.- Pathological Neonatal Screening Results.- Metabolic Emergencies.- Cardiovascular Abnormalities.- Hepatic Abnormalities.- Gastrointestinal and General Abdominal Symptoms.- Renal and Electrolyte Disturbances.- Neurological Symptoms.- Myopathies.- Psychiatric Problems.- Eye Disorders.- Skin and Hair Disorders.- Sceletal Abnormalities.- Congenital Malformations.- Hematological Abnormalities.- Immunological Problems.- Peculiar Odour.- Investigations for Metabolic Disease.- Biochemical Studies.- Enzyme Studies.- DNA Studies.- Function Tests.- Other Investigations.- Postmodern Investigations.- Work-up for an Unclassified Multisystem Disease.- Work-up for a Possible Mitochondrial Disorder.- Indications for Lumbar Puncture.- Prenatal Diagnosis.- Family Analyses - Carrier Analysis.- Appendix.

Informations détaillées sur le livre - Inherited Metabolic Diseases: A Clinical Approach


EAN (ISBN-13): 9783540747222
ISBN (ISBN-10): 3540747222
Version reliée
Date de parution: 2009
Editeur: Springer
448 Pages
Poids: 1,149 kg
Langue: eng/Englisch

Livre dans la base de données depuis 2008-06-03T21:41:43+02:00 (Paris)
Page de détail modifiée en dernier sur 2024-02-28T10:54:21+01:00 (Paris)
ISBN/EAN: 3540747222

ISBN - Autres types d'écriture:
3-540-74722-2, 978-3-540-74722-2
Autres types d'écriture et termes associés:
Auteur du livre: zschocke, johannes hoffmann, williams, georg hoffmann, william hoffmann, kahler, johannes hoff, kähler, johannes uhl, hoffmann max, georg may
Titre du livre: dvd, metabolic inherited disease, clinical and metabolic, metabolic inherited diseases


Données de l'éditeur

Auteur: Georg F. Hoffmann; Johannes Zschocke; William L. Nyhan
Titre: Inherited Metabolic Diseases - A Clinical Approach
Editeur: Springer; Springer Berlin
386 Pages
Date de parution: 2009-12-18
Berlin; Heidelberg; DE
Imprimé / Fabriqué en
Langue: Anglais
123,04 € (DE)
126,49 € (AT)
153,65 CHF (CH)
Not available, publisher indicates OP

SA; Book with CD-ROM; Hardcover, Softcover / Medizin/Klinische Fächer; Pädiatrie; Verstehen; Medizin, Gesundheit; skin; differential diagnosis; management; biopsy; Inborn Errors of Metabolism; diagnosis; metabolic disease; care; screening; metabolism; metabolic disorder; medicine; prenatal diagnosis; treatment; DNA; Pediatrics; Medicine; B; Internal Medicine; General Practice / Family Medicine; Neurology; Pathology; Human Genetics; Klinische und Innere Medizin; Allgemeinmedizin / Familienmedizin; Neurologie und klinische Neurophysiologie; Pathologie; Genetik, Medizin; EA; DB; SA

to Inborn Errors of Metabolism.- Disorders of Intermediary Metabolism.- Disorders of the Biosynthesis and Breakdown of Complex Molecules.- Neurotransmitter Defects and Related Disorders.- Approach to the Patient with Metabolic Disease.- When to Suspect Metabolic Disease.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Patient Care and Treatment.- Anesthesia and Metabolic Disease.- Organ Systems in Metabolic Disease.- Approach to the Patient with Cardiovascular Disease.- Liver Disease.- Gastrointestinal and General Abdominal Symptoms.- Kidney Disease and Electrolyte Disturbances.- Neurological Disease.- Metabolic Myopathies.- Psychiatric Disease.- Eye Disorders.- Skin and Hair Disorders.- Physical Abnormalities in Metabolic Diseases.- Hematological Disorders.- Immunological Problems.- Investigations for Metabolic Diseases.- Newborn Screening for Inherited Metabolic Disease.- Biochemical Studies.- Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases.- DNA Studies.- Pathology — Biopsy.- Suspected Mitochondrial Disorder.- Postmortem Investigations.- Function Tests.- Family Issues, Carrier Tests, and Prenatal Diagnosis.

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