東華大學圖書館 |

Language: English

Help

回圖書館首頁

手機版館藏查詢

Back

Switch To: Labeled | MARC Mode | ISBD

Inherited metabolic diseases = a cli...

Hoffmann, Georg F.

Linked to FindBook

Google Book

Amazon

博客來

Inherited metabolic diseases = a clinical approach /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Inherited metabolic diseases/ edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan.
Reminder of title:	a clinical approach /
other author:	Hoffmann, Georg F.
Published:	Berlin, Heidelberg :Springer Berlin Heidelberg : : 2017.,
Description:	xvii, 605 p. :ill., digital ;24 cm.
[NT 15003449]:	Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism -- Mitochondriopathies Neurotransmitter Defects -- Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease -- Patient Care and Treatment -- Metabolic Emergencies -- Anesthesia and Metabolic Disease -- Principles of Dietary Therapy -- Principles of Enzyme Replacement Therapy -- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease -- Liver Disease -- Gastrointestinal and General Abdominal Symptoms -- Kidney Disease and Electrolyte Disturbances -- Neurological Disease -- Metabolic Myopathies -- Psychiatric Disease -- Eye Disorder -- Skin and Hair Disorders -- Bone Disorders -- Physical Abnormalities in Metabolic Diseases -- Hematological Disorders -- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening -- Biochemical Studies -- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases -- Molecular Investigations (DNA Studies) -- Pathology / Biopsy -- Postmortem Investigations -- Neuroimaging -- Function Tests -- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes -- Reference Books -- E3 Internet Resources.
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of - Diagnosis. -
Online resource:	http://dx.doi.org/10.1007/978-3-662-49410-3
ISBN:	9783662494103

Inherited metabolic diseases = a clinical approach /
Inherited metabolic diseasesa clinical approach /[electronic resource] :edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan. - 2nd ed. - Berlin, Heidelberg :Springer Berlin Heidelberg :2017. - xvii, 605 p. :ill., digital ;24 cm.

Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism -- Mitochondriopathies Neurotransmitter Defects -- Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease -- Patient Care and Treatment -- Metabolic Emergencies -- Anesthesia and Metabolic Disease -- Principles of Dietary Therapy -- Principles of Enzyme Replacement Therapy -- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease -- Liver Disease -- Gastrointestinal and General Abdominal Symptoms -- Kidney Disease and Electrolyte Disturbances -- Neurological Disease -- Metabolic Myopathies -- Psychiatric Disease -- Eye Disorder -- Skin and Hair Disorders -- Bone Disorders -- Physical Abnormalities in Metabolic Diseases -- Hematological Disorders -- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening -- Biochemical Studies -- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases -- Molecular Investigations (DNA Studies) -- Pathology / Biopsy -- Postmortem Investigations -- Neuroimaging -- Function Tests -- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes -- Reference Books -- E3 Internet Resources.

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. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

ISBN: 9783662494103

Standard No.: 10.1007/978-3-662-49410-3doiSubjects--Topical Terms:

1066971
Metabolism, Inborn errors of
--Diagnosis.

LC Class. No.: RC627.8

Dewey Class. No.: 616.39042

Inherited metabolic diseases = a clinical approach /
LDR:04062nmm a2200325 a 4500 001 2087906
003 DE-He213
005 20160920162055.0
006 m d
007 cr nn 008maaau
008 171013s2017 gw s 0 eng d
020 $a 9783662494103 $q (electronic bk.)
020 $a 9783662494080 $q (paper)
024 7 $a 10.1007/978-3-662-49410-3 $2 doi
035 $a 978-3-662-49410-3
040 $a GP $c GP
041 0 $a eng
050 4 $a RC627.8
072 7 $a MJW $2 bicssc
072 7 $a MED069000 $2 bisacsh
082 0 4 $a 616.39042 $2 23
090 $a RC627.8 $b .I55 2017
245 0 0 $a Inherited metabolic diseases $h [electronic resource] : $b a clinical approach / $c edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan.
250 $a 2nd ed.
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2017.
300 $a xvii, 605 p. : $b ill., digital ; $c 24 cm.
505 0 $a Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism -- Mitochondriopathies Neurotransmitter Defects -- Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease -- Patient Care and Treatment -- Metabolic Emergencies -- Anesthesia and Metabolic Disease -- Principles of Dietary Therapy -- Principles of Enzyme Replacement Therapy -- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease -- Liver Disease -- Gastrointestinal and General Abdominal Symptoms -- Kidney Disease and Electrolyte Disturbances -- Neurological Disease -- Metabolic Myopathies -- Psychiatric Disease -- Eye Disorder -- Skin and Hair Disorders -- Bone Disorders -- Physical Abnormalities in Metabolic Diseases -- Hematological Disorders -- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening -- Biochemical Studies -- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases -- Molecular Investigations (DNA Studies) -- Pathology / Biopsy -- Postmortem Investigations -- Neuroimaging -- Function Tests -- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes -- Reference Books -- E3 Internet Resources.
520 $a 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. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.
650 0 $a Metabolism, Inborn errors of $x Diagnosis. $3 1066971
650 0 $a Metabolism $x Disorders $x Genetic aspects. $3 1066970
650 1 4 $a Medicine & Public Health. $3 890906
650 2 4 $a Pediatrics. $3 559143
650 2 4 $a Internal Medicine. $3 858559
650 2 4 $a General Practice / Family Medicine. $3 893976
650 2 4 $a Neurology. $3 588698
650 2 4 $a Pathology. $3 643180
650 2 4 $a Human Genetics. $3 891169
700 1 $a Hoffmann, Georg F. $3 1066967
700 1 $a Zschocke, Johannes. $3 1066969
700 1 $a Nyhan, William L. $3 1066968
710 2 $a SpringerLink (Online service) $3 836513
773 0 $t Springer eBooks
856 4 0 $u http://dx.doi.org/10.1007/978-3-662-49410-3
950 $a Medicine (Springer-11650)