Verfügbarkeit: Inherited metabolic diseases

Inherited metabolic diseases: a clinical approach

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Bibliographische Detailangaben
Weitere Verfasser:	Hoffmann, Georg F. 1957- (HerausgeberIn), Zschocke, Johannes 1964- (HerausgeberIn), Nyhan, William L. 1926- (HerausgeberIn)
Format:	Buch
Sprache:	English
Veröffentlicht:	Berlin ; Heidelberg Springer [2017]
Ausgabe:	Second edition
Schlagworte:	Stoffwechselstörung Erbkrankheit Stoffwechselkrankheit Mixed media product MED069000 MJW DNA Dietary Therapy Enzyme Replacement Therapy Gene Therapy Inborn Errors of Metabolism Metabolic Emergencies Metabolic Medicine Newborn Screening B SCB12008: Human Genetics SCH24003: General Practice / Family Medicine SCH33002: Internal Medicine SCH36001: Neurology SCH4800X: Pathology SCH49006: Pediatrics SUCO11650: Medicine 1693: Hardcover, Softcover / Medizin/Klinische Fächer Aufsatzsammlung
Online-Zugang:	Inhaltstext Inhaltsverzeichnis Inhaltsverzeichnis
Beschreibung:	Bestellnummer: 86381555
Beschreibung:	xvii, 605 Seiten Illustrationen
ISBN:	9783662494080 3662494086

Internformat

MARC


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Datensatz im Suchindex

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adam_text	CONTENTS PART I INTRODUCTION TO INBORN ERRORS OF METABOLISM 1 DISORDERS OF INTERMEDIARY M ETABOLISM. 3 JOHANNES ZSCHOCKE 2 DISORDERS OF THE BIOSYNTHESIS AND BREAKDOWN OF COMPLEX MOLECULES. 9 JOHANNES ZSCHOCKE 3 NEUROTRANSMITTER DEFECTS AND RELATED DISORDERS . 13 GEORG F. HOFFMANN PART II APPROACH TO THE PATIENT 4 WHEN TO SUSPECT METABOLIC DISEASE . 19 WILLIAM L. NYHAN 5 PATIENT CARE AND TREATMENT. 29 WILLIAM L. NYHAN AND GEORG F. HOFFMANN 6 INHERITED METABOLIC DISEASES IN THE CONTEXT OF RARE/ORPHAN DISEASES. 31 GEORG F. HOFFMANN 7 STRUCTURED COMMUNICATION AND BEHAVIOURAL MEDICINE. 33 PETER BURGARD 8 GUIDELINES AND FOLLOW-UP. 41 STEFAN KOELKER 9 PATIENT AND FAMILY ASSOCIATIONS . 45 STEVE HANNIGAN 10 ADOLESCENCE, EMERGING ADULTHOOD, AND PROBLEMS OF TRANSITION. 49 URSULA PLOECKINGER 11 PREGNANCY AND MATERNAL CARE . 61 ELAINE MURPHY 12 METABOLIE EMERGENCIES . 81 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG R HOFFMANN 13 WORKUP OF THE PATIENT WITH METABOLIC ACIDOSIS AND MASSIVE KETOSIS. 91 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 14 WORKUP OF THE PATIENT WITH LACTIC ACIDEMIA: MITOCHONDRIAL DISEASE . 95 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 15 WORK-UP OF THE PATIENT WITH HYPOGLYCEMIA . 101 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 16 APPROACH TO THE CHILD SUSPECTED OF HAVING A DISORDER OF FATTY ACID OXIDATION. 107 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 17 WORK-UP OF THE PATIENT WITH HYPERAMMONEMIA . 113 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 18 WORK-UP OF THE PATIENT WITH ACUTE NEUROLOGICAL OR PSYCHIATRIC MANIFESTATIONS . 119 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 19 EMERGENCY TREATMENT OF INHERITED METABOLIC DISEASES . 125 WILLIAM L. NYHAN, STEFAN KOELKER, AND GEORG F. HOFFMANN 20 ANESTHESIA AND METABOLIC DISEASE. 133 WILLIAM L. NYHAN 21 PRINCIPLES OF DIETARY MANAGEMENT. 139 ANITA MACDONALD 22 GENE AND CELL THERAPY FOR INBORN ERRORS OF METABOLISM . 155 CARY O. HARDING PART III ORGAN SYSTEMS IN METABOLIC DISEASE 23 APPROACH TO THE PATIENT WITH CARDIOVASCULAR DISEASE . 175 JOACHIM KREUDER AND STEPHEN G. KAHLER 24 LIVER DISEASE. 203 GEORG F. HOFFMANN AND PATRICK MCKIERNAN 25 GASTROINTESTINAL AND GENERAL ABDOMINAL SYMPTOMS. 227 STEPHEN G. KAHLER 26 KIDNEY DISEASE AND ELECTROLYTE DISTURBANCES . 239 WILLIAM L. NYHAN 27 NEUROLOGICAL DISEASE. 251 ANGELS GARCIA-CAZORLA, NICOLE I. WOLF, FANNY MOCHEL, AND GEORG F. HOFFMANN 28 METABOLIE MYOPATHIES. 293 STEPHEN G. KAHLER 29 PSYCHIATRIC DISEASE. 313 ERTAN MAYATEPEK 30 EYE D ISORDERS . 319 ALBERTO BURLINA, ANDREA CELATO, AND ALESSANDRO R BURLINA 31 SKIN AND HAIR DISORDERS. 341 DIEGO MARTINELLI, MAYA EL HACHEM, ENRICO BERTINI, AND CARLO DIONISI-VICI 32 THE BONE IN GENETIC AND METABOLIE DISEASES: A PRACTICAL APPROACH. 371 ANDREA SUPERTI-FURGA, LUISA BONAFE, AND SHEILA UNGER 33 PHYSICAL ABNORMALITIES IN METABOLIC DISEASES . 381 UTE MOOG, JOHANNES ZSCHOCKE, AND STEPHANIE GRUENEWALD 34 HEMATOLOGICAL D ISORDERS. 401 ELLEN CRUSHED AND JOE T.R. CLARKE 35 IMMUNOLOGICAL PROBLEMS. 411 ERTAN MAYATEPEK PART IV INVESTIGATIONS FOR METABOLIC DISEASES 36 NEWBORN SCREENING FOR INHERITED METABOLIC DISEASE. 421 DIETRICH MATERN AND PIERO RINALDO 37 BIOCHEMICAL S TUDIES. 439 MIAO HE AND K. MICHAEL GIBSON 38 ENZYME DIAGNOSTICS IN A CHANGING WORLD OF EXOME SEQUENCING AND NEWBORN SCREENING AS EXEMPLIFIED FOR PEROXISOMAL, MITOCHONDRIAL, AND LYSOSOMAL DISORDERS. 461 RONALD J.A. WANDERS, BEN J.H.M. POORTHUIS, AND RICHARD J.T. RODENBURG 39 MOLECULAR GENETIC ANALYSES . 489 JOHANNES ZSCHOCKE 40 FAMILY ISSUES, CARRIER TESTS AND PRENATAL DIAGNOSIS. 499 JOHANNES ZSCHOCKE 41 FUNCTION TESTS . 505 JOHANNES ZSCHOCKE AND STEFAN KOELKER 42 DIAGNOSTIC WORKUP OF PATIENTS WITH MITOCHONDRIAL DISEASES. 521 SHAMIMA RAHMAN AND NICOLE I. WOLF 43 PATHOLOGY: BIOPSY . JOSEFINE RADKE, WERNER STENZEL, AND HANS H. GOEBEL 44 POSTMORTEM INVESTIGATIONS . 551 PIERO RINALDO 45 NEURORADIOLOGY. 555 INGA HARTING AND NICOLE I. WOLF APPENDIX. 571 INDEX. 587
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spelling	Inherited metabolic diseases a clinical approach Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors Second edition Berlin ; Heidelberg Springer [2017] xvii, 605 Seiten Illustrationen txt rdacontent n rdamedia nc rdacarrier Bestellnummer: 86381555 Stoffwechselstörung (DE-588)4057701-6 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Mixed media product MED069000 MJW DNA Dietary Therapy Enzyme Replacement Therapy Gene Therapy Inborn Errors of Metabolism Metabolic Emergencies Metabolic Medicine Newborn Screening B SCB12008: Human Genetics SCH24003: General Practice / Family Medicine SCH33002: Internal Medicine SCH36001: Neurology SCH4800X: Pathology SCH49006: Pediatrics SUCO11650: Medicine 1693: Hardcover, Softcover / Medizin/Klinische Fächer (DE-588)4143413-4 Aufsatzsammlung gnd-content Stoffwechselkrankheit (DE-588)4057700-4 s Erbkrankheit (DE-588)4015106-2 s DE-604 Stoffwechselstörung (DE-588)4057701-6 s 1\p DE-604 Hoffmann, Georg F. 1957- (DE-588)115652868 edt Zschocke, Johannes 1964- (DE-588)130300748 edt Nyhan, William L. 1926- (DE-588)133115194 edt Springer-Verlag GmbH (DE-588)1065168780 pbl Erscheint auch als Online-Ausgabe 978-3-662-49410-3 X:MVB text/html http://deposit.dnb.de/cgi-bin/dokserv?id=f019ec154c2a4f7594731d20bca3ddb2&prov=M&dok_var=1&dok_ext=htm Inhaltstext B:DE-101 application/pdf http://d-nb.info/1081259361/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031703639&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk
spellingShingle	Inherited metabolic diseases a clinical approach Stoffwechselstörung (DE-588)4057701-6 gnd Erbkrankheit (DE-588)4015106-2 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd
subject_GND	(DE-588)4057701-6 (DE-588)4015106-2 (DE-588)4057700-4 (DE-588)4143413-4
title	Inherited metabolic diseases a clinical approach
title_auth	Inherited metabolic diseases a clinical approach
title_exact_search	Inherited metabolic diseases a clinical approach
title_full	Inherited metabolic diseases a clinical approach Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors
title_fullStr	Inherited metabolic diseases a clinical approach Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors
title_full_unstemmed	Inherited metabolic diseases a clinical approach Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors
title_short	Inherited metabolic diseases
title_sort	inherited metabolic diseases a clinical approach
title_sub	a clinical approach
topic	Stoffwechselstörung (DE-588)4057701-6 gnd Erbkrankheit (DE-588)4015106-2 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd
topic_facet	Stoffwechselstörung Erbkrankheit Stoffwechselkrankheit Aufsatzsammlung
url	http://deposit.dnb.de/cgi-bin/dokserv?id=f019ec154c2a4f7594731d20bca3ddb2&prov=M&dok_var=1&dok_ext=htm http://d-nb.info/1081259361/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=031703639&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
work_keys_str_mv	AT hoffmanngeorgf inheritedmetabolicdiseasesaclinicalapproach AT zschockejohannes inheritedmetabolicdiseasesaclinicalapproach AT nyhanwilliaml inheritedmetabolicdiseasesaclinicalapproach AT springerverlaggmbh inheritedmetabolicdiseasesaclinicalapproach

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