Laboratory Guide to the Methods in Biochemical Genetics PDF Download
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Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540766987
Category : Medical
Languages : en
Pages : 860
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Book Description
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540766987
Category : Medical
Languages : en
Pages : 860
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Book Description
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author: Nenad Blau
Publisher: Springer Nature
ISBN: 3031588193
Category :
Languages : en
Pages : 531
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Book Description
Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 9783540425427
Category : Medical
Languages : en
Pages : 770
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Book Description
Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
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Book Description
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.
Author: McKinsey L. Goodenberger
Publisher: Oxford University Press
ISBN: 0190604921
Category : Medical
Languages : en
Pages : 409
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Book Description
This is an essential manual for the future of genetic counselling. It codifies the theory and practice of laboratory genetic counselling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counsellors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counsellors at any career stage
Author: A Parthasarathy
Publisher: Jaypee Brothers Medical Publishers
ISBN: 9390595150
Category : Medical
Languages : en
Pages : 527
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Book Description
1A. Newborn 1B. Newborn 2. Growth and Development 3. Nutrition 4. Infectious Diseases 5. Gastroenterology and Hepatology 6. Neurology 7. Cardiology 8. Pulmonology 9A. Allergy and Immunology 9B. Allergy and Immunology 10A. Nephrology 10B. Nephrology 11A. Urology 11B. Urology 12. Hematology 13. Oncology 14. Otorhinolaryngology 15. Dermatology 16. Ophthalmology 17A. Endocrinology 17B. Endocrinology 18. Genetic and Congenital Disorders 19. Metabolic Disorders 20. Adolescent Medicine 21A. Emergency Medicine and Intensive Care 21B. Emergency Medicine and Intensive Care 22A. Neurodevelopmental Disorders and Learning Disabilities 22B. Neurodevelopmental Disorders and Learning Disabilities 23. Pediatric Surgery Index
Author: Sotir Sotirov
Publisher: Springer Nature
ISBN: 3031310691
Category : Technology & Engineering
Languages : en
Pages : 310
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Book Description
This book presents a collection of high-quality research papers, presented at the Second International Symposium on Bioinformatics and Biomedicine (BioInfoMed’2022). It offers a comprehensive look into some of the fastest growing fields of science, such as biomedicine, bioinformatics, artificial intelligence, and mathematical modeling. The different chapters of the work include both practical solutions and strictly scientific considerations expanding knowledge about the future bioinformatics and biomedical engineering challenges. We believe that the presented works will have a great impact not only on the development and the application of new methods for modeling, decision making and data mining in healthcare and biomedicine, but also it will provide a source of inspiration for researchers who can implement the proposed methods into their practice and scientific studies.
Author: Johannes Zschocke
Publisher: Springer
ISBN: 3642541496
Category : Medical
Languages : en
Pages : 164
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Book Description
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Author: Johannes Zschocke
Publisher: Springer
ISBN: 3662437481
Category : Medical
Languages : en
Pages : 116
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Book Description
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Author: William L Nyhan
Publisher: CRC Press
ISBN: 1138196622
Category : Medical
Languages : en
Pages : 1779
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Book Description
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.
