Author: Neil Anton HoltzmanPublisher:
ISBN:
Category : Genetic screening
Languages : en
Pages : 32
Book Description
Newborn Screening for Genetic-metabolic Diseases
Author: Neil Anton HoltzmanPublisher:
ISBN:
Category : Genetic screening
Languages : en
Pages : 32
Book Description
Inherited Metabolic Diseases
Author: Georg F. HoffmannPublisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 380
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.
Saving Babies?
Author: Stefan TimmermansPublisher: University of Chicago Press
ISBN: 022627361X
Category : Medical
Languages : en
Pages : 320
Book Description
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
Neonatal Screening for Inborn Errors of Metabolism
Author: H. BickelPublisher: Springer Science & Business Media
ISBN: 3642674887
Category : Medical
Languages : en
Pages : 354
Book Description
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.
Inborn Errors of Metabolism
Author: Brendan LeePublisher: Oxford Monographs on Medical G
ISBN: 0199797587
Category : Medical
Languages : en
Pages : 393
Book Description
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.
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
Author: N. BlauPublisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732
Book Description
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.
Genetic Screening for Inborn Errors of Metabolism
Author: Harvey L. LevyPublisher:
ISBN:
Category : Genetics
Languages : en
Pages : 116
Book Description
Newborn Screening for Inborn Errors of Metabolism
Author: Mohamed A. ElmonemPublisher: Frontiers Media SA
ISBN: 2889715671
Category : Science
Languages : en
Pages : 131
Book Description
A Clinical Guide to Inherited Metabolic Diseases
Author: Joe T. R. ClarkePublisher: Cambridge University Press
ISBN: 1139447181
Category : Medical
Languages : en
Pages : 360
Book Description
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening
Author: Michael J. GambelloPublisher:
ISBN: 9780323356626
Category : Genetic disorders
Languages : en
Pages : 0
Book Description
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.