A Quick Guide to Metabolic Disease Testing Interpretation

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM. Includes pathway diagrams and representative compound scans of important diagnostic compounds Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism Highlights brief descriptions of the etiology and clinical presentation of each presented disorder

Produk Detail:

  • Author : Patricia Jones
  • Publisher : Academic Press
  • Pages : 220 pages
  • ISBN : 0128169273
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKA Quick Guide to Metabolic Disease Testing Interpretation

A Quick Guide to Metabolic Disease Testing Interpretation

A Quick Guide to Metabolic Disease Testing Interpretation
  • Author : Patricia Jones,Khushbu Patel,Dinesh Rakheja
  • Publisher : Academic Press
  • Release : 31 July 2020
GET THIS BOOKA Quick Guide to Metabolic Disease Testing Interpretation

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important

Inherited Metabolic Disease in Adults

Inherited Metabolic Disease in Adults
  • Author : Professor of Internal Medicine Division of Endocrinology and Metabolism Carla E M Hollak,Robin Lachmann,Consultant in Metabolic Medicine Head of Charles Dent Metabolic Unit Robin Lachmann
  • Publisher : Oxford University Press
  • Release : 16 August 2016
GET THIS BOOKInherited Metabolic Disease in Adults

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

Small Animal Clinical Diagnosis by Laboratory Methods - E-Book

Small Animal Clinical Diagnosis by Laboratory Methods - E-Book
  • Author : Michael D. Willard,Harold Tvedten
  • Publisher : Elsevier Health Sciences
  • Release : 23 December 2011
GET THIS BOOKSmall Animal Clinical Diagnosis by Laboratory Methods - E-Book

A quick guide to appropriately selecting and interpreting laboratory tests, Small Animal Clinical Diagnosis by Laboratory Methods, 5th Edition helps you utilize your in-house lab or your specialty reference lab to efficiently make accurate diagnoses without running a plethora of unnecessary and low-yield tests. It provides answers to commonly asked questions relating to laboratory tests, and solutions to frequently encountered problems in small animal diagnosis. For easy reference, information is provided by clinical presentation and abnormalities, and includes hundreds of

Inherited Metabolic Diseases

Inherited Metabolic Diseases
  • Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
  • Publisher : Springer Science & Business Media
  • Release : 21 November 2009
GET THIS BOOKInherited Metabolic Diseases

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.

A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases
  • Author : Joe T. R. Clarke
  • Publisher : Cambridge University Press
  • Release : 08 December 2005
GET THIS BOOKA Clinical Guide to Inherited Metabolic Diseases

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,

Pediatric Genetics and Inborn Errors of Metabolism

Pediatric Genetics and Inborn Errors of Metabolism
  • Author : Christine M. Houser
  • Publisher : Springer Science & Business Media
  • Release : 12 April 2014
GET THIS BOOKPediatric Genetics and Inborn Errors of Metabolism

Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the

Quick Guide to Kidney Transplantation

Quick Guide to Kidney Transplantation
  • Author : Phuong-Chi T Pham,Phuong-Thu T Pham
  • Publisher : Lippincott Williams & Wilkins
  • Release : 11 February 2019
GET THIS BOOKQuick Guide to Kidney Transplantation

Concise, easy to read, and designed for quick reference,Quick Guide to Kidney Transplantationis a compact resource for general nephrologists, residents, fellows, nurse practitioners, and others involved in the care of post-transplant patients. Focusing on must-know clinical information needed to provide optimal patient care, this expertly written guide helps you gain the knowledge and expertise you need in this complex area.

Pediatric Endocrinology and Inborn Errors of Metabolism

Pediatric Endocrinology and Inborn Errors of Metabolism
  • Author : Kyriakie Sarafoglou,Georg F. Hoffmann,Karl S. Roth
  • Publisher : McGraw Hill Professional
  • Release : 01 September 2012
GET THIS BOOKPediatric Endocrinology and Inborn Errors of Metabolism

Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal

Assessing Genetic Risks

Assessing Genetic Risks
  • Author : Institute of Medicine,Committee on Assessing Genetic Risks
  • Publisher : National Academies Press
  • Release : 01 January 1994
GET THIS BOOKAssessing Genetic Risks

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decisionmaking, public health

Understanding Genetics

Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher : Lulu.com
  • Release : 11 April 2021
GET THIS BOOKUnderstanding Genetics

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care,

Laboratory Guide to the Methods in Biochemical Genetics

Laboratory Guide to the Methods in Biochemical Genetics
  • Author : Nenad Blau,Marinus Duran,K. Michael Gibson
  • Publisher : Springer Science & Business Media
  • Release : 31 May 2008
GET THIS BOOKLaboratory Guide to the Methods in Biochemical Genetics

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.

Quick guide to Laboratory Medicine: a student's overview

Quick guide to Laboratory Medicine: a student's overview
  • Author : Armando Guerra-Ruiz,Bernardo Lavin,Mayte Garcia Unzueta
  • Publisher : Discover Bioworld
  • Release : 15 September 2017
GET THIS BOOKQuick guide to Laboratory Medicine: a student's overview

This book provides an overview of useful laboratory tests as complementary tests for the diagnosis of common ailments and diseases in standard medical practice. The reader will find a concise but detailed guide to the tests, their rationale and their interpretation.