Newborn Screening for Genetic-metabolic Diseases
Author : Neil Anton Holtzman
Publisher :
Page : 32 pages
File Size : 37,38 MB
Release : 1977
Category : Genetic screening
ISBN :
Author : Neil Anton Holtzman
Publisher :
Page : 32 pages
File Size : 37,38 MB
Release : 1977
Category : Genetic screening
ISBN :
Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
Page : 380 pages
File Size : 16,25 MB
Release : 2009-11-21
Category : Medical
ISBN : 3540747230
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 : Stefan Timmermans
Publisher : University of Chicago Press
Page : 320 pages
File Size : 22,14 MB
Release : 2015-05-06
Category : Medical
ISBN : 022627361X
Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening
Author : H. Bickel
Publisher : Springer Science & Business Media
Page : 354 pages
File Size : 43,56 MB
Release : 2012-12-06
Category : Medical
ISBN : 3642674887
Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
Author : Brendan Lee
Publisher : Oxford Monographs on Medical G
Page : 393 pages
File Size : 50,92 MB
Release : 2014-10-13
Category : Medical
ISBN : 0199797587
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Author : N. Blau
Publisher : Springer Science & Business Media
Page : 732 pages
File Size : 25,65 MB
Release : 2012-12-06
Category : Science
ISBN : 364255878X
This second edition of 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. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been 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 three indices to make the book as user-friendly as possible.
Author : Harvey L. Levy
Publisher :
Page : 116 pages
File Size : 23,57 MB
Release : 1975
Category : Genetics
ISBN :
Author : Pedro A. de Alarcón
Publisher : Cambridge University Press
Page : 501 pages
File Size : 38,73 MB
Release : 2021-02-18
Category : Medical
ISBN : 1108488986
An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
Author : Galanello Renzo
Publisher :
Page : 190 pages
File Size : 25,1 MB
Release : 2003
Category :
ISBN : 9789963623396
Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.
Author : Mohamed A. Elmonem
Publisher : Frontiers Media SA
Page : 131 pages
File Size : 22,36 MB
Release : 2021-10-29
Category : Science
ISBN : 2889715671