Atlas of inherited metabolic diseases:
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| Previous Title: | Atlas of metabolic disease |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
London
Hodder Arnold
2012
|
| Edition: | 3. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XIV, 874 S. Ill., graph. Darst. Zugang zur Internetausgabe über Code |
| ISBN: | 9781444112252 1444112252 |
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MARC
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| 245 | 1 | 0 | |a Atlas of inherited metabolic diseases |c William L. Nyhan ; Bruce A. Barshop and Aida I. Al-Aqeel |
| 250 | |a 3. ed. | ||
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Record in the Search Index
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|---|---|
| adam_text | Titel: Atlas of inherited metabolic diseases
Autor: Nyhan, William L.
Jahr: 2012
Contents
Contributor ix
Foreword xi
Preface xii
PART 1 ORGANIC ACIDEMIAS___________________________________________________________________________________
1 Introduction 3
2 Propionic acidemia 8
3 Methylmalonic acidemia 19
4 Methylmalonic aciduria and homocystinuria (cobalamin C and D disease) 33
5 Multiple carboxylase deficiency/holocarboxylase synthetase deficiency 40
6 Multiple carboxylase deficiency/biotinidase deficiency 47
7 Isovaleric acidemia 57
8 Glutaric aciduria (type I) 64
9 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria 74
10 D-2-Hydroxyglutaric aciduria 79
11 L-2-Hydroxyglutaric aciduria 85
12 4-Hydroxybutyric aciduria 89
13 Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency 95
PART 2 DISORDERS OF AMINO ACID METABOLISM_________________________________________________________________
14 Alkaptonuria 105
15 Phenylketonuria 112
16 Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin 123
17 Biogenic amines 136
18 Homocystinuria 144
19 Maple syrup urine disease (branched-ehain oxoaciduria) 152
20 Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency 164
21 Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency 171
22 Nonketotic hyperglycinemia 180
PART 3 HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE___________________________________________________
23 Introduction to hyperammonemia and disorders of the urea cycle 191
24 Ornithine transcarbamylase deficiency 197
25 Carbamylphosphate synthetase deficiency 205
26 Citrullinemia 210
27 Argininosuccinic aciduria 216
28 Argininemia 223
29 Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome 229
30 Lysinuric protein intolerance 235
31 Glutamine synthetase deficiency 241
vi Contents
PART 4 DISORDERS OF FATTY ACID OXIDATION
32 Introduction to disorders of fatty acid oxidation 247
33 Carnitine transporter deficiency 253
34 Carnitine-acylcarnitine translocase deficiency 260
35 Carnitine palmitoyl transferase I deficiency 267
36 Carnitine palmitoyl transferase II deficiency, lethal neonatal 273
37 Carnitine palmitoyl transferase II deficiency, late onset 277
38 Medium chain acyl CoA dehydrogenase deficiency 281
39 Very long chain acyl CoA dehydrogenase deficiency 289
40 Long chain L-3-hydroxyacyl CoA dehydrogenase - (trifunctional protein deficiency) 295
41 Short-chain acyl CoA dehydrogenase deficiency 302
42 3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency 309
43 Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency 312
44 Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type ll/ethylmalonic-adipic aciduria 316
45 3-Hydroxy-3-methylglutarylCoA lyase deficiency 325
PART 5 THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE
46 Introduction to the lactic acidemias 337
47 Pyruvate carboxylase deficiency 347
48 Fructose-1,6-diphosphatase deficiency 354
49 Deficiency of the pyruvate dehydrogenase complex 359
50 Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate, and branched chain oxoacid dehydrogenases 368
51 Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS) 374
52 Myoclonic epilepsy and ragged red fiber (MERRF) disease 382
53 Neurodegeneration, ataxia, and retinitis pigmentosa (NARP) 388
54 Keams-Sayre syndrome 393
55 Pearson syndrome 398
56 The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency 404
PART 6 DISORDERS OF CARBOHYDRATE METABOLISM
57 Galactosemia 415
58 Glycogen storage diseases: introduction 425
59 Glycogenosis type I - Von Gierke disease 428
60 Glycogenosis type ll/Pompe/lysosomal a-glucosidase deficiency 438
61 Glycogenosis type Ill/amylo-1,6-gIucosidase (debrancher) deficiency 447
PART 7 PEROXISOMAL DISORDERS
62 Adrenoleukodystrophy 459
63 Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis 469
PART 8 DISORDERS OF PURINE METABOLISM
64 Lesch-Nyhan disease and variants 483
65 Adenine phosphoribosyl-transferase deficiency 498
66 Phosphoribosylpyrophosphate synthetase and its abnormalities 503
67 Adenosine deaminase deficiency 507
68 Adenylosuccinate lyase deficiency 514
69 Orotic aciduria 518
Contents vii
PART 9 DISORDERS OF TRANSPORT AND MINERAL METABOLISM
70 Cystin uria 525
71 Cystinosis 532
72 Hartnup disease 540
73 Histidinuria 544
74 Menkes disease 546
PART 10 MUCOPOLYSACCHARIDOSES
75 Introduction to mucopolysaccharidoses 555
76 Hurler disease/mueopolysaceharidosis type IHa-L-iduronidase deficiency 558
77 Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/a-iduronidase deficiency 566
78 Hunter disease/mueopolysaceharidosis type ll/iduronate sulfatase deficiency 572
79 Sanfilippo disease/mueopolysaceharidosis type III 580
80 Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia 588
81 Maroteaux-Lamy disease/mueopolysaceharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency 597
82 Sly disease/ß-glucuronidase deficiency/mucopolysaceharidosis VII 605
PART 11 MUCOLIPIDOSES
83 l-cell disease/mucolipidosis II 613
84 Mucolipidosis lll/pseudo-Hurler polydystrophy/N-acetyl-glucosaminyl-l-phosphotransferase deficiency 621
PART 12 DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM
85 Familial hypercholesterolemia 631
86 Mevalonic aciduria 642
87 Lipoprotein lipase deficiency/type I hyperlipoproteinemia 648
PART 13 LIPID STORAGE DISORDERS
88 Fabry disease 659
89 GM, gangliosidosis/ß-galactosidase deficiency 666
90 Tay-Sachs disease/hexosaminidase A deficiency 678
91 Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency 686
92 GM2 activator deficiency/GM2 gangliosidosis - deficiency of the activator protein 694
93 Gaucher disease 698
94 Niemann-Pick disease 708
95 Niemann-Pick type C disease/cholesterol-processing abnormality 718
96 Krabbe disease/galaetosylceramide lipidosis/globoid cell leukodystrophy 726
97 Wolman disease/cholesteryl ester storage disease 733
98 Fucosidosis 740
99 oc-Mannosidosis 745
100 Galactosialidosis 752
101 Metachromatic leukodystrophy 760
102 Multiple sulfatase deficiency 769
PART 14 MISCELLANEOUS
103 Congenital disorder of glycosylation, type la 781
104 Other forms of congenital disorders of glycosylation 787
viii Contents
105 a.-Antitrypsin deficiency 8Ü3
106 Caravan disease/aspartoacylase deficiency 811
107 Ethyimaiomc encepha!opathy 819
108 Disorders of creat;ne synthesis or transport 82/
Appendix 833
Index 847
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| isbn | 9781444112252 1444112252 |
| language | English |
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| spelling | Atlas of inherited metabolic diseases William L. Nyhan ; Bruce A. Barshop and Aida I. Al-Aqeel 3. ed. London Hodder Arnold 2012 XIV, 874 S. Ill., graph. Darst. Zugang zur Internetausgabe über Code txt rdacontent n rdamedia nc rdacarrier Stofwisselingsziekten gtt Metabolism, Inborn Errors Metabolic disorders in children Atlases Metabolism Disorders Atlases Metabolism, Inborn Errors Atlases Metabolism, Inborn errors of Atlases Atlas (DE-588)4143303-8 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Atlases Stoffwechselkrankheit (DE-588)4057700-4 s Atlas (DE-588)4143303-8 s DE-604 Nyhan, William L. Sonstige oth Barshop, Bruce A. Sonstige oth Al-Aqeel, Aida I. Sonstige oth 2. Auflage Atlas of metabolic disease HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024822952&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Atlas of inherited metabolic diseases Stofwisselingsziekten gtt Metabolism, Inborn Errors Metabolic disorders in children Atlases Metabolism Disorders Atlases Metabolism, Inborn Errors Atlases Metabolism, Inborn errors of Atlases Atlas (DE-588)4143303-8 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4143303-8 (DE-588)4057700-4 |
| title | Atlas of inherited metabolic diseases |
| title_auth | Atlas of inherited metabolic diseases |
| title_exact_search | Atlas of inherited metabolic diseases |
| title_full | Atlas of inherited metabolic diseases William L. Nyhan ; Bruce A. Barshop and Aida I. Al-Aqeel |
| title_fullStr | Atlas of inherited metabolic diseases William L. Nyhan ; Bruce A. Barshop and Aida I. Al-Aqeel |
| title_full_unstemmed | Atlas of inherited metabolic diseases William L. Nyhan ; Bruce A. Barshop and Aida I. Al-Aqeel |
| title_old | Atlas of metabolic disease |
| title_short | Atlas of inherited metabolic diseases |
| title_sort | atlas of inherited metabolic diseases |
| topic | Stofwisselingsziekten gtt Metabolism, Inborn Errors Metabolic disorders in children Atlases Metabolism Disorders Atlases Metabolism, Inborn Errors Atlases Metabolism, Inborn errors of Atlases Atlas (DE-588)4143303-8 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Stofwisselingsziekten Metabolism, Inborn Errors Metabolic disorders in children Atlases Metabolism Disorders Atlases Metabolism, Inborn Errors Atlases Metabolism, Inborn errors of Atlases Atlas Stoffwechselkrankheit Atlases |
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