NHS Logo

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (Record no. 101961)

MARC details
000 -LEADER
fixed length control field 07204nam a22005535i 4500
001 - CONTROL NUMBER
control field 978-3-030-67727-5
003 - CONTROL NUMBER IDENTIFIER
control field DE-He213
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20240729134739.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr nn 008mamaa
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 220221s2022 sz | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9783030677275
-- 978-3-030-67727-5
072 #7 - SUBJECT CATEGORY CODE
Subject category code MJC
Source bicssc
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED027000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MJC
Source thema
245 10 - TITLE STATEMENT
Title Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
250 ## - EDITION
Edition statement 2nd ed. 2022.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture Cham :
Name of producer, publisher, distributor, manufacturer Springer International Publishing :
-- Imprint: Springer,
Date of production, publication, distribution, manufacture, or copyright notice 2022.
300 ## - PHYSICAL DESCRIPTION
Physical description XXXI, 1534 p. 285 illus., 157 illus. in color.
Other physical details online resource.
336 ## - CONTENT TYPE
Content type term text
Content type code txt
Source rdacontent
337 ## - MEDIA TYPE
Media type term computer
Media type code c
Source rdamedia
338 ## - CARRIER TYPE
Carrier type term online resource
Carrier type code cr
Source rdacarrier
505 0# - CONTENTS
Contents Part 1. GENERAL SUBJECTS AND PROFILES -- 1. Newborn Screening for Inborn Errors of Metabolism -- 2. Simple Tests and Routine Chemistry -- 3. Amino Acids -- 4. Organic Acids -- 5 .Acylcarnitines -- 6. Lysosomals -- 7. Untargeted Metabolomics - Next Generation Metabolic Screening -- 8. MRI and In Vivo Spectroscopy of the Brain -- 9. Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism -- 10. Other-omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism -- 11. Emergency Diagnostic Procedures and Emergency Treatment -- 12. Nosology of Inborn Errors of Metabolism -- Part 2. DISORDERS OF NITROGEN-CONTAINING COMPOUNDS -- 13. Purine and Pyrimidine Disorders -- 14. Disorders of nucleotide metabolism -- 15. Disorders of Creatine Metabolism -- 16. Disorder of Glutathione Metabolism -- 17. Disorders of Ammonia Detoxification -- 18. Amino Acid Transport Defects -- 19. Disorders of Monoamine Metabolism -- 20. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism -- 21. Disorders of Tyrosine Metabolism -- 22. Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism -- 23. Disorders of Branched-Chain Amino Acid Metabolism -- 24. Disorders of Beta and Gamma Amino Acids -- 25. Amino Acid Synthesis Deficiencies -- 26. Disorders of Glycine Metabolism -- 27. Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism -- Part 3. DISORDERS OF VITAMINS, COFACTORS, METALS AND MINERALS -- 28. Disorders of Cobalamin Metabolism -- 29. Disorders of Folate Metabolism and Transport -- 30. Disorders of Biotin Metabolism -- 31. Thiamine Disorders -- 32. Disorders of Riboflavin Metabolism -- 33. Disorders of Niacin, NAD and Panthotenate Metabolism -- 34. Vitamin B6-Dependent and Responsive Disorders -- 35. Molybdenum Cofactor Disorders -- 36. Disorders of Copper, Zinc and Selenium Metabolism -- 37. Disorders of Iron Metabolism -- 38. Disorders of Manganese Metabolism -- Part 4. DISORDERS OF CARBOHYDRATES -- 39. Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism -- 40. Disorders of the Pentose Phosphate Pathway and Polyol Metabolism -- 41. Hyperinsulinism -- Part 5. MITOCHONDRIAL DISORDERS OF ENERGY METABOLISM -- 42. Disorders of the Pyruvate Metabolism and the Krebs Cycle -- 43. Disorders of Mitochondrial Carriers -- 44. Isolated Mitochondrial Complex Deficiencies -- 45. Disorders of Replication, Transcription and Translation of Mitochondrial DNA -- 46. Disorders of mitochondrial homeostasis, dynamics, protein import and quality control -- 47. Primary Coenzyme Q10 Deficiencies -- Part 6. DISORDERS OF LIPIDS -- 48. Mitochondrial Fatty Acid Oxidation Disorders -- 49. Disorders of Glycerol Metabolism -- 50. Disorders of Ketone Body Metabolism and Transport -- 51. Disorders of Complex Lipids -- 52. Disorders of Eicosanoid Metabolism -- 53. Disorders of Lipoprotein Metabolism -- 54. Disorders of Cholesterol Biosynthesis -- 55. Disorders of Adrenals and Gonads -- 56. Disorders of Bile Acid Synthesis. Part 7. DISORDERS OF TETRAPYRROLES -- 57. Disorders of Heme Metabolism -- 58. Inherited Disorders of Bilirubin Metabolism -- Part 8. STORAGE DISORDERS -- 59. Disorders of Autophagy -- 60. Lipidoses: The Sphingolipidoses, Lysosomal Acid Lipase Deficiency and Niemann Pick type C -- 61. The Neuronal Ceroid Lipofuscinoses.-62. Mucolipidoses, Multiple Sulfatase deficiency, Cathepsin K and C Deficiency -- 63. Oligosaccharidoses and Sialic Acid Disorders -- 64. The Mucopolysaccharidoses -- 65. Cystinosis -- Part 9. DISORDERS OF PEROXISOMES AND OXALATE -- 66. Peroxisomal Disorders -- 67. Disorders for Oxalate Metabolism -- Part 10. CONGENITAL DISORDERS OF GLYCOSYLATION -- 68. Congenital Disorders of Glycosylation -- Part 11. VARIOUS -- 69. Cerebral Organic Acidurias -- 70. 3-Methylglutaconic acidurias -- 71. Biochemical Phenotypes of Questionable Clinical Significance -- 72. Knowledgebase of Inborn Errors of Metabolism (IEMbase): A Practical Approach -- 73. WikiPathways: Integrating Pathway Knowledge with Clinical Data.
520 ## - ABSTRACT
Abstract This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
650 #0 - SUBJECT HEADINGS
Subject term Diseases.
650 #0 - SUBJECT HEADINGS
Subject term Clinical biochemistry.
650 #0 - SUBJECT HEADINGS
Subject term Pediatrics.
650 #0 - SUBJECT HEADINGS
Subject term Medicine
General subdivision Research.
650 #0 - SUBJECT HEADINGS
Subject term Biology
General subdivision Research.
650 #0 - SUBJECT HEADINGS
Subject term Medical genetics.
650 14 - SUBJECT HEADINGS
Subject term Diseases.
650 24 - SUBJECT HEADINGS
Subject term Medical Biochemistry.
650 24 - SUBJECT HEADINGS
Subject term Pediatrics.
650 24 - SUBJECT HEADINGS
Subject term Biomedical Research.
650 24 - SUBJECT HEADINGS
Subject term Medical Genetics.
700 1# - ADDED PERSONAL NAME
Added personal author Blau, Nenad.
Relator term editor.
700 1# - ADDED PERSONAL NAME
Added personal author Dionisi Vici, Carlo.
Relator term editor.
700 1# - ADDED PERSONAL NAME
Added personal author Ferreira, Carlos R.
Relator term editor.
700 1# - ADDED PERSONAL NAME
Added personal author Vianey-Saban, Christine.
Relator term editor.
700 1# - ADDED PERSONAL NAME
Added personal author van Karnebeek, Clara D. M.
Relator term editor.
710 2# - ADDED CORPORATE NAME
Added corporate author SpringerLink (Online service)
856 ## - ONLINE RESOURCE
Uniform Resource Identifier <a href="#gotoholdings">#gotoholdings</a>
Link text Access resource
245 ## - TITLE STATEMENT
Medium [E-Book]
347 ## - DIGITAL FILE CHARACTERISTICS
File type text file
Encoding format PDF
Source rda
912 ## -
-- ZDB-2-SME
912 ## -
-- ZDB-2-SXM
Holdings
Withdrawn status Lost status Damaged status Not for loan Home library Current library Shelving location Date acquired Source of acquisition Total Checkouts Date last seen Uniform Resource Identifier Price effective from Koha item type
        Hillingdon Hospitals Library Services (Hillingdon Hospitals NHS Foundation) Hillingdon Hospitals Library Services (Hillingdon Hospitals NHS Foundation) Online 02/05/2024 Springer BiomedLifeSc   02/05/2024 https://go.openathens.net/redirector/nhs?url=https://doi.org/10.1007/978-3-030-67727-5 02/05/2024 Electronic book
London Health Libraries Consortium Privacy notice and Membership terms and conditions