F. Enzyme Defects in the Lipidoses and their prenatal Detection

Chapters in this book

1. Frontmatter I
2. Preface V
3. Index of Contributors VII
4. Contents XI
5. Quantities and Units XXXI
6. Chapter IV (continued)
7. C. Biologically Active Amines 855
8. D. Thyroid Hormones 871
9. V. Bile Acids
10. A. General Remarks 885
11. B. Isolation of the Bile Acids 887
12. C. Determination of the Bile Acids 895
13. VI. Carbohydrates and Related Compounds
14. A. Glucose, Galactose, Fructose, Inulin, and Ketone Bodies in Blood and Urine 908
15. B. Gas-Liquid Chromatography of Carbohydrates 931
16. C. Glycosaminoglycans 944
17. VII. Vitamins
18. Introduction 972
19. A. Vitamin A 975
20. B. Vitamin B₁₂ 983
21. C. Vitamin C 989
22. D. Vitamin D 998
23. E. Chemical, Isotopic and Microbiologic Tests for the Detection of Folic Acid Deficiency 1005
24. VIII. Lipids
25. A. Analysis of Lipoproteins 1009
26. B. Routine Methods of Lipid Analysis 1019
27. C. Chromatographic Methods of Lipid Analysis 1042
28. IX. Amino Acids
29. 1. Introduction 1062
30. A. Simple Screening Procedures of Urine and Blood for Inborn Errors of Amino Acid Metabolism 1072
31. B. Qualitative Methods for the Estimation of Amino Acids in Physiological Fluids 1075
32. C. Quantitative Determination of Amino Acids by Column Chromatography 1087
33. D. Microbiological Determination of Amino Acids 1102
34. E. Miscellaneous Methods of Amino Acid Estimation 1103
35. F. Gas Chromatographic Determination of Amino Acids 1107
36. G. Discussion 1111
37. X. Other Non-Protein Nitrogenous Compounds
38. A. Ammonia Determination 1122
39. B. Urea Determination 1124
40. C. Uric Acid Determination 1129
41. D. Creatinine Determination 1135
42. E. Creatine Determination 1138
43. XI. Enzymes
44. A. Enzymes in Plasma and Serum 1142
45. B. Erythrocyte Enzymes 1178
46. C. Glycogen and Enzymes of Glycogen Metabolism 1208
47. D. Enzymes of Fructose and Galactose Metabolism; Galactose-1 -Phosphate 1236
48. E. Gastroenterology 1252
49. F. Enzyme Defects in the Lipidoses and their prenatal Detection 1277
50. G. UDP glucuronyltransferase 1292
51. H. Survey of Enzyme Assays Related to Inborn Errors of Metabolism 1297
52. XII. Hemoglobins, Porphyrins and Related Compounds
53. A. Heme Proteins 1305
54. B. Porphyrins and Porphyrin Precursors 1323
55. C. Bilirubin and other Bile Pigments 1372
56. XIII. Organic Acids in Urine
57. A. Aromatic Acids 1390
58. B. Acids of the Tricarboxylic Acid Cycle 1397
59. C. _α-Keto Carboxylic Acids 1407
60. D. Other Organic Acids 1417
61. XIV. Toxicology
62. A. Introduction 1425
63. B. Gases 1427
64. C. Solvents 1434
65. D. Pesticides 1439
66. E. Pharmaceuticals 1446
67. F. Alkaloids and Drugs 1463
68. XV. Proteins
69. A. Determination of Total Protein 1468
70. B. Fractions of the Plasma Proteins 1479
71. C. Blood Coagulation and Fibrinolysis 1514
72. XVI. Kidney Function Tests 1531
73. XVII. Inorganic Substances
74. A. Cations 1566
75. B. Anions 1575
76. C. Heavy- and Semi-metals of Clinical or Toxicological Importance 1584
77. XVIII. Blood Gas Transport and Acid-Base Balance
78. Introduction 1604
79. A. Determination of pH in Blood 1618
80. B. Determination of CO₂ in Blood 1623
81. C. Determination of O₂ in Blood 1641
82. D. Mass Spectrometry of Blood and Respiration Gases 1653
83. Errata 1677
84. Index 1679
85. Backmatter 1714