Neonatal Screening For Inborn Errors Of Metabolism

Author : H. Bickel,R. Guthrie,G. Hammersen
Publisher : Springer
Page : 0 pages
File Size : 48,9 Mb
Release : 2011-11-15
Category : Medical
ISBN : 3642674909

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Neonatal Screening for Inborn Errors of Metabolism by H. Bickel,R. Guthrie,G. Hammersen Pdf

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,Fernando Scaglia
Publisher : Oxford Monographs on Medical G
Page : 393 pages
File Size : 49,5 Mb
Release : 2014-10-13
Category : Medical
ISBN : 9780199797585

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Inborn Errors of Metabolism by Brendan Lee,Fernando Scaglia Pdf

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 : H. Bickel,R. Guthrie,G. Hammersen
Publisher : Springer Science & Business Media
Page : 348 pages
File Size : 53,7 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642674884

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Neonatal Screening for Inborn Errors of Metabolism by H. Bickel,R. Guthrie,G. Hammersen Pdf

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 : Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel
Publisher : Frontiers Media SA
Page : 131 pages
File Size : 50,7 Mb
Release : 2021-10-29
Category : Science
ISBN : 9782889715671

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Newborn Screening for Inborn Errors of Metabolism by Mohamed A. Elmonem,Lambertus Petrus Van Den Heuvel Pdf

Author : Neil Anton Holtzman
Publisher : Unknown
Page : 32 pages
File Size : 53,5 Mb
Release : 1977
Category : Genetic screening
ISBN : SRLF:A0006749691

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Newborn Screening for Genetic-metabolic Diseases by Neil Anton Holtzman Pdf

Author : Harvey L. Levy
Publisher : Unknown
Page : 120 pages
File Size : 48,6 Mb
Release : 1975
Category : Genetics
ISBN : UIUC:30112010157052

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Genetic Screening for Inborn Errors of Metabolism by Harvey L. Levy Pdf

Author : Jürgen Backhaus
Publisher : Springer
Page : 0 pages
File Size : 49,7 Mb
Release : 2008-11-13
Category : Business & Economics
ISBN : 0387097791

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The Beginnings of Political Economy by Jürgen Backhaus Pdf

Ju ̈ rgen G. Backhaus 1 Johann Heinrich Gottlob (von) Justi was born in 1702 in Bru ̈ cken in Prussia (county of Sangerhausen), studied law and cameral sciences in Wittenberg and Jena, yet had to leave the university, entered the Prussian military service, was captured during the Austrian war of succession by the Austrians but escaped to Leipzig (Saxony) where he studied mineral sciences. In 1750 he was called to a chair ‘‘Cameral Sciences and Rhetorics’’ at the new Theresian Academy of Knights in Vienna. There, he gave two important inaugural lectures which are the focal point of this book. In 1754, Justi was appointed a mineral counsellor in Gottingen ̈ (Hanover), and lectured at the Saxonian University on both state sciences and natural sciences. In 1762, Frederic II (the Great) of Prussia appointed him Prussian captain (highest supervisory position) of mines and general supervisor of fiscal-mineral activities. In 1768 he was accused of embezzlement, and before he could prove his innocence, he died in 1771 as a prisoner in the (decaying) fortress of Ku ̈ strin. Due to his death, the case was never decided. But Frederic had obviously made his own decision. When he appointed Justi, the appointee pointed out that he was suffering from weak eye sight and could not readily check the bookkeeping. Frederic replied: You may have weak eyes but you have a bright mind. I shall put two eyes by your side.

Author : Vernon Reid Sutton,Ayman W. El-Hattab
Publisher : Elsevier Health Sciences
Page : 128 pages
File Size : 49,7 Mb
Release : 2018-03-22
Category : Medical
ISBN : 9780323584128

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Inborn Errors of Metabolism, An Issue of Pediatric Clinics of North America by Vernon Reid Sutton,Ayman W. El-Hattab Pdf

The guest editors have compiled expert authors to provide current updates on the clinical management of inborn errors of metabolism. Authors have contributed clinical review articles on the following topics: Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management; Inborn errors of metabolism with acidosis: organic acidemias and defects of pyruvate and ketone body metabolism; Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders; Inborn errors of metabolism with hypoglycemia: glycogen storage diseases and gluconeogenesis defects; Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and carnitine transport; Inborn errors of metabolism with seizures: defects of glycine and serine metabolism and co-factor related disorders; Inborn errors of metabolism with hepatopathy: metabolism defects of galactose, fructose, and tyrosine; Inborn errors of metabolism with cognitive impairment: metabolism defects of phenylalanine, homocysteine and methionine, purine and pyrimidine, and creatine; Inborn errors of metabolism with movement disorders: defects in metal transport and neurotransmitter metabolism; Inborn errors of metabolism involving complex molecules: lysosomal and peroxisomal storage diseases; Inborn errors of metabolism with complex phenotypes: mitochondrial disorders and congenital disorders of glycosylation; and Newborn screening: history, current status, and future directions.

Author : Michael J. Gambello,V. Reid Sutton
Publisher : Unknown
Page : 0 pages
File Size : 53,9 Mb
Release : 2015
Category : Genetic disorders
ISBN : 0323356621

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Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening by Michael J. Gambello,V. Reid Sutton Pdf

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.

Author : K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer Science & Business Media
Page : 421 pages
File Size : 42,9 Mb
Release : 2013-03-14
Category : Medical
ISBN : 9783662031476

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Inborn Metabolic Diseases by K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe Pdf

Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Author : Michael J. Gambello
Publisher : Elsevier Health Sciences
Page : 281 pages
File Size : 50,8 Mb
Release : 2015-08-12
Category : Medical
ISBN : 9780323356855

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Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology, by Michael J. Gambello Pdf

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.

Author : Karen Patrias
Publisher : Unknown
Page : 60 pages
File Size : 45,6 Mb
Release : 1987
Category : Metabolic disorders in children
ISBN : MINN:319510030796143

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Newborn Screening, January 1980 Through March 1987 by Karen Patrias Pdf

Author : Nenad Blau,Marinus Duran,K. Michael Gibson
Publisher : Springer Science & Business Media
Page : 860 pages
File Size : 50,5 Mb
Release : 2008-05-31
Category : Medical
ISBN : 9783540766988

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Laboratory Guide to the Methods in Biochemical Genetics by Nenad Blau,Marinus Duran,K. Michael Gibson Pdf

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 : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 380 pages
File Size : 51,8 Mb
Release : 2009-11-21
Category : Medical
ISBN : 9783540747239

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Inherited Metabolic Diseases by Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan Pdf

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 : Uttam Garg,Laurie D. Smith
Publisher : Elsevier
Page : 476 pages
File Size : 42,8 Mb
Release : 2017-06-07
Category : Medical
ISBN : 9780128029183

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Biomarkers in Inborn Errors of Metabolism by Uttam Garg,Laurie D. Smith Pdf

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism