Biomarkers in Inborn Errors of Metabolism

Written By Uttam Garg
Biomarkers in Inborn Errors of Metabolism
  • Publsiher : Elsevier
  • Release : 07 June 2017
  • ISBN : 0128029188
  • Pages : 476 pages
  • Rating : 4/5 from 21 reviews
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Read or download book entitled Biomarkers in Inborn Errors of Metabolism written by Uttam Garg which was release on 07 June 2017, this book published by Elsevier. Available in PDF, EPUB and Kindle Format. Book excerpt: 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

Biomarkers in Inborn Errors of Metabolism

Biomarkers in Inborn Errors of Metabolism
  • Author : Uttam Garg,Laurie D. Smith
  • Publisher : Elsevier
  • Release Date : 2017-06-07
  • Total pages : 476
  • ISBN : 0128029188
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Summary : 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 ...

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  • Publisher : Academic Press
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  • ISBN : 0128029188
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Summary : Advances in Clinical Chemistry, Volume 94, the latest installment in this internationally acclaimed series, contains chapters authored by world-renowned clinical laboratory scientists, physicians and research scientists. The serial discusses the latest technologies relating to the field of clinical chemistry, with specific chapters in this new release covering Hypertensive disorders of pregnancy: ...

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Summary : Download or read online Biomarkers Genetics and Cancer written by Hoda Anton-Guirgis,Henry T. Lynch, published by Van Nostrand Reinhold Company which was released on 1985. Get Biomarkers Genetics and Cancer Books now! Available in PDF, ePub and Kindle....

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Summary : Download or read online Examination of Diet Physical Activity Biomarkers of Bone Mineralization Bone Mineral Content and Body Composition in Children Between 5 Years of Age and Puberty written by Marcia Kelly Scott, published by which was released on 2008. Get Examination of Diet Physical Activity Biomarkers of Bone Mineralization Bone Mineral ...

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Summary : Download or read online Electrospray assisted Laser Desorption Ionization Mass Spectrometry for Proteomic Studies written by Ivory Xingyu Peng, published by which was released on 2009. Get Electrospray assisted Laser Desorption Ionization Mass Spectrometry for Proteomic Studies Books now! Available in PDF, ePub and Kindle....

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Summary : Download or read online The Encyclopedia of Mass Spectrometry written by Michael L. Gross,Richard M. Caprioli, published by which was released on 2003. Get The Encyclopedia of Mass Spectrometry Books now! Available in PDF, ePub and Kindle....

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Summary : Download or read online Studies of Biochemical Markers Indicating Molybdenum Status in Human Subjects Fed Diets Varying in Molybdenum Content written by Glenn Chiang, published by which was released on 1991. Get Studies of Biochemical Markers Indicating Molybdenum Status in Human Subjects Fed Diets Varying in Molybdenum Content Books now! Available ...

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Summary : Presents a different view of medicinal chemistry through personal accounts by eminent scientists describing their lifetime experiences in the field. Also illustrates 14 case studies of successful drug discovery and development. * valuable content available May 2009 as an individual volume * separate volumes will appeal to a wider chemistry, biochemistry and medicinal audience * ...

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  • Publisher : Unknown
  • Release Date : 2020
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Summary : Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogenous group of disorders caused by defective enzymes, cofactors or transporters in metabolic pathways, which lead to dysfunctional metabolism and/or the accumulation of toxic intermediate metabolites. Although individually rare, they are common as a group with a combined incidence ...