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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek
| Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek |
| Edizione | [2nd ed. 2022.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2022 |
| Descrizione fisica | 1 online resource (1513 pages) |
| Disciplina | 616.39042 |
| Soggetto topico |
Diseases
Clinical biochemistry Pediatrics Medicine - Research Biology - Research Medical genetics Medical Biochemistry Biomedical Research Medical Genetics |
| ISBN | 3-030-67727-3 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910547298503321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici
| Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (880 p.) |
| Disciplina |
599935
610 610724 611.01816 |
| Soggetto topico |
Metabolic diseases
Medical biochemistry Pediatrics Laboratory medicine Human genetics Metabolic Diseases Medical Biochemistry Laboratory Medicine Human Genetics |
| ISBN | 3-642-40337-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles. |
| Record Nr. | UNINA-9910300081103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||