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Author : John Adolph Anderson,Kenneth F. Swaiman
Publisher : Unknown
Page : 258 pages
File Size : 55,6 Mb
Release : 1967
Category : Metabolism
ISBN : UCAL:B3506479
Author : Anonim
Publisher : Unknown
Page : 260 pages
File Size : 42,7 Mb
Release : 1967
Category : Electronic
ISBN : STANFORD:24501645010
Author : John Adolph Anderson,Kenneth F. Swaiman,University of Minnesota. Department of Pediatrics
Publisher : Unknown
Page : 239 pages
File Size : 54,6 Mb
Release : 1967
Category : Metabolism
ISBN : OCLC:656612888
Author : Anonim
Publisher : Unknown
Page : 239 pages
File Size : 42,6 Mb
Release : 1967
Category : Phenylketonuria
ISBN : OCLC:14501252
Author : John Adolph Anderson,Kenneth F. Swaiman
Publisher : Unknown
Page : 256 pages
File Size : 52,6 Mb
Release : 1967
Category : Metabolism
ISBN : UOM:39015002415845
Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Page : 657 pages
File Size : 53,7 Mb
Release : 2016
Category : Medical
ISBN : 9780199972135
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Page : 6338 pages
File Size : 52,9 Mb
Release : 2001
Category : Genetic disorders
ISBN : 007136319X
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Diane B. Paul,Jeffrey P. Brosco
Publisher : JHU Press
Page : 316 pages
File Size : 49,8 Mb
Release : 2013-12-01
Category : Medical
ISBN : 9781421411323
How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
Author : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Publisher : IOS Press
Page : 960 pages
File Size : 41,9 Mb
Release : 2017-01-06
Category : MEDICAL
ISBN : 9781614997184
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Author : Johannes Zschocke,Georg F. Hoffmann
Publisher : Schattauer Verlag
Page : 188 pages
File Size : 47,9 Mb
Release : 2011
Category : Pediatrics
ISBN : 9783794528165
Author : William Nyhan,Georg Hoffmann,Bruce Barshop,Aida Al-Aqeel
Publisher : CRC Press
Page : 889 pages
File Size : 55,6 Mb
Release : 2011-12-30
Category : Medical
ISBN : 9781444149487
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
Author : William Nyhan,Bruce Barshop,Pinar Ozand
Publisher : CRC Press
Page : 801 pages
File Size : 53,5 Mb
Release : 2005-08-26
Category : Medical
ISBN : 9781444114591
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, auth
Author : Harvey L. Levy
Publisher : Unknown
Page : 116 pages
File Size : 54,8 Mb
Release : 1975
Category : Genetics
ISBN : SRLF:A0006882245
Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 386 pages
File Size : 40,8 Mb
Release : 2009-11-21
Category : Medical
ISBN : 9783540747239
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.