Last edited by Arashizahn
Tuesday, July 21, 2020 | History

9 edition of A Clinical Guide to Inherited Metabolic Diseases found in the catalog.

A Clinical Guide to Inherited Metabolic Diseases

by Joe T. R. Clarke

  • 295 Want to read
  • 0 Currently reading

Published by Cambridge University Press .
Written in English

    Subjects:
  • Diseases & disorders,
  • Medical genetics,
  • Medical / Nursing,
  • Medical,
  • Pediatrics,
  • Diseases,
  • Endocrinology & Metabolism,
  • Medical / Pediatrics,
  • Metabolism, Inborn errors of

  • The Physical Object
    FormatPaperback
    Number of Pages358
    ID Numbers
    Open LibraryOL7748669M
    ISBN 100521614996
    ISBN 109780521614993

    The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. out of 5 stars Finally, the metabolic book I've always wanted Reviewed in the United States on I'm almost half-way through this book, and for the first time I'm understanding the concepts behind metabolic diseases.5/5.

    This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where one The well-illustrated text is organised around the clinical presentation of the disease to facilitate rapid diagnosis. Abstract. GA1 (OMIM #) is a disorder of the catabolic pathways of the amino acids L-tryptophan, L-lysine, and yl-CoA dehydrogenase (EC) is the enzyme that catalyzes the conversion of the α-ketoacid form of these amino acids through glutaryl-CoA and glutaconyl-CoA to its crotonyl-CoA form.

    This clinical handbook provides a clear and concise overview of how to recognize and diagnose 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. A Clinical Guide to Inherited Metabolic Diseases, 2nd ed. Article (PDF Available) in Journal of Heredity 94(2) March with Reads How we measure 'reads'Author: Keith Vaux.


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A Clinical Guide to Inherited Metabolic Diseases by Joe T. R. Clarke Download PDF EPUB FB2

Book Description This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases.

To help make the correct diagnosis, the book is organized according to the clinical symptoms Cited by:   A Clinical Guide to Inherited Metabolic Diseases: Medicine & Health Science Books @ 5/5(2).

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program/5(3).

This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine. 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.

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.4/5(2).

JTR Clarke. Cambridge: Cambridge University Press; pp. US$40 (paper) ISBN Rating: **** Audience: Pediatricians, clinical geneticists, residents and others involved in the care of patients with inherited metabolic disorders Content: An excellent book for physicians who find inherited metabolic disorders intimidating, this book is also an excellent source for those who Author: Alicia K.J.

Chan. This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. To help make the correct diagnosis, the book is organized according to the clinical symptoms presenting in these patients. This new edition includes much new and up-dated material.5/5(1).

This user-friendly clinical handbook provides a clear and concise overview of how to go about derisledthroughthediagnostic processfromtheidentificationofthosefeaturesofanillnesssuggestingthatitmightbemetabolic through the selection of appropriate laboratory investigation to a final diagnosis.

Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood.

They severely affect up to 1 in 10, people, and lead to a wide range of special needs in care and education. This guide provides specialist information on metabolic diseases for the non-specialist.5/5(1). This user-friendly clinical handbook provides a clear and concise overview of how to recognize and diagnose 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.

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.

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. Dr Clarke’s enthusiasm and erudition are evident on every page of this book, which is handily sized, and, wonder of wonders, costs only £ Most of the chapters are written with a clinically based approach, and the chapters on basic principles in understanding inherited metabolic disease, neonatal screening, hypoglycaemia, metabolic acidosis, storage diseases, and dysmorphism will be Cited by: 5.

This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis.4/5.

In this book, Dr Clarke has made an effort to provide a clear and concise overview of how to go about diagnosing and treating inherited metabolic diseases. The book takes off in an easy, smooth fashion, with an introduction to basics of metabolic by: 1.

Take metabolic acidosis—a common presentation that has the ability to mystify and deceive when it may be no more than severe shock with poor perfusion and lactic acidosis.

It is also a common presenting or coincident feature of many inherited metabolic diseases. Clarke elegantly guides the reader towards timely diagnostic by: 1. A clinical Guide to Inherited Metabolic Diseases Published: J.T.R.

Clarke Cambridge University Press,   Inherited Metabolic Disease in Adults A Clinical Guide Edited by Carla E. Hollak and Robin Lachmann Oxford Monographs on Medical Genetics. Offers clear classification and biochemical description of all inborn metabolic disorders (IMDs), pediatric and adult; A systematic approach to each condition makes for easy clinical utility and navigability.

A Clinical Guide to Inherited Metabolic Diseases by Clarke, J.T.R. and a great selection of related books, art and collectibles available now at - A Clinical Guide to Inherited Metabolic Diseases by Clarke, Joe T R - AbeBooks Passion for. 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 ted Metabolic Disease ."This clinically organized, user-friendly handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis - how to determine that it is an inherited metabolic disease, and where to go from here to establish a diagnosis.

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 and a number of new diseases that can manifest at any age.

It is the first book to give a clear and concise overview of how this group of.