000 07530nam a22006135i 4500
999 _c200458401
_d76613
003 DE-He213
005 20231109085912.0
007 cr nn 008mamaa
008 220221s2022 sz | s |||| 0|eng d
020 _a9783030677275
024 7 _a10.1007/978-3-030-67727-5
_2doi
040 _aTR-AnTOB
_beng
_erda
_cTR-AnTOB
060 _aWD 205
072 7 _aMJC
_2bicssc
072 7 _aMED027000
_2bisacsh
072 7 _aMJC
_2thema
096 _aWD205EBK
245 1 0 _aPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
_h[electronic resource] /
_cedited by Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek.
250 _a2nd ed. 2022.
264 1 _aCham :
_bSpringer International Publishing :
_bImprint: Springer,
_c2022.
300 _a1 online resource
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aPart 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 _aThis 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 _aDiseases.
650 0 _aClinical biochemistry.
650 0 _aPediatrics.
650 0 _aMedicine
_xResearch.
650 0 _aBiology
_xResearch.
650 0 _aMedical genetics.
650 1 4 _aDiseases.
650 2 4 _aMedical Biochemistry.
650 2 4 _aPediatrics.
650 2 4 _aBiomedical Research.
650 2 4 _aMedical Genetics.
653 0 _aMetabolism, Inborn Errors -- diagnosis
653 0 _aMetabolism, Inborn Errors -- therapy
700 1 _aBlau, Nenad.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aDionisi Vici, Carlo.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aFerreira, Carlos R.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aVianey-Saban, Christine.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _avan Karnebeek, Clara D. M.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
856 4 0 _uhttps://doi.org/10.1007/978-3-030-67727-5
_3Springer eBooks
_zOnline access link to the resource
942 _2NLM
_cEBK
041 _aeng