Atlas of metabolic diseases:
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
London [u.a.]
Chapman & Hall Medical
1998
|
| Edition: | 1. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | VIII, 680 S. zahlr. Ill., graph. Darst. |
| ISBN: | 0412479605 |
Staff View
MARC
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| 100 | 1 | |a Nyhan, William L. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Atlas of metabolic diseases |c William L. Nyhan and Pinar T. Ozand |
| 250 | |a 1. ed. | ||
| 264 | 1 | |a London [u.a.] |b Chapman & Hall Medical |c 1998 | |
| 300 | |a VIII, 680 S. |b zahlr. Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 650 | 4 | |a Metabolism |x Disorders |v Atlases | |
| 650 | 4 | |a Metabolism, Inborn Errors | |
| 650 | 4 | |a Metabolism, Inborn Errors |v Atlases | |
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Record in the Search Index
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| adam_text | Contents
Preface vii
PART ONE Organic Acidemias 1
Introduction 1
1 Propionic acidemia 4
2 Methylmalonic acidemia 13
3 Methylmalonic aciduria and homo
cystinuria / Cobalamin C and D disease 24
4 Multiple carboxylase deficiency /
Holocarboxylase synthetase deficiency 27
5 Multiple carboxylase deficiency /
Biotindase deficiency 33
6 Isovaleric acidemia 41
7 Glutaric aciduria (type I) 46
8 3 Methylcrotonyl CoA carboxylase
deficiency / 3 Methylcrotonylglycinuria 53
9 3 Methylgutaconic aciduria 57
10 3 Hydroxyisobutyric aciduria 64
11 Malonic aciduria with normal
malonyl CoA decarboxylase 69
12 D 2 Hydroxyglutaric aciduria 73
13 L 2 Hydroxyglutaric aciduria 76
14 2 Oxoadipic aciduria 79
15 4 Hydroxybutyric aciduria 82
16 3 Oxothiolase deficiency 87
PART TWO Disorders of Ainino
Acid Metabolism 95
17 Albinism 96
18 Alkaptonuria 104
19 Phenylketonuria (PKU) 109
20 Hyperphenylalaninemia and defective
metabolism of tetrahydrobiopterin 117
21 Homocystinuria 126
22 Homocystinuria due to
N(5,l O) methylene tetrahydrofolate
red uctase deficiency 133
23 Maple syrup urine disease /
Branched chain oxoaciduria 138
24 Oculocutaneous tyrosinemia /
Tyrosine aminotransferase deficiency 147
25 Hepatorenal tyrosinemia / Fumarylaceto
acetate hydrolase deficiency 153
26 Nonketotic hyperglycinemia 160
PART THREL Hyperammonemi.i
and Disorders of the L rc.i C ycle Hi 7
Introduction 167
27 Ornithine transcarbamylase deficiency 168
28 Carbamyl phosphate synthetase
deficiency 178
29 Citrullinemia 182
30 Argininosuccinic aciduria 188
31 Argininemia 194
32 Hyperornithinemia, hyperammonemia,
homocitrullinuria (HHH) syndrome 199
33 Lysinuric protein intolerance 204
PART I OUR Disorders of I ,ittv
Arid (Kkl.ition 2( c
Introduction 209
34 Carnitine transporter deficiency 212
35 Carnitine translocase deficiency 217
36 Carnitine palmitoyl transferase I
deficiency 220
37 Medium chain acyl Co A dehydrogenase
(MCAD) deficiency 223
38 Very long chain acyl Co A
dehydrogenase (VLCAD) deficiency 229
39 Long chain acyl Co A dehydrogenase
(LCAD) deficiency 231
40 Long chain L 3 hydroxyacyl CoA
dehydrogenase (LCHAD) deficiency /
Trifunctional protein deficiency 235
41 Short chain acyl CoA dehydrogenase
(SCAD) deficiency 240
42 Short chain 3 hydroxyacyl CoA
dehydrogenase (SCHAD) deficiency 243
43 Multiple acyl CoA dehydrogenase
deficiency / Glutaric aciduria, type II /
Ethylmalonic adipic aciduria 245
44 3 Hydroxy 3 methyglutaryl CoA
lyase deficiency 253
PART FIVE The Lactic Acidemias and
Mitochondrial Disease 259
Introduction 259
45 Pyruvate carboxylase deficiency 267
46 fructose l,6 diphosphatase deficiency 273
47 Deficiency of the pyruvate
dehydrogenase complex (PDHC) 278
48 Lactic acidemias and defective activity
of pyruvate, 2 oxoglutarate and branched
chain oxoacid dehydrogenases 286
49 Myoclonic epilepsy and ragged red
fibre (MERRF) disease 292
50 Mitochondrial encephalomyopathy,
lactic acidosis and stroke like
episodes (MELAS) 297
51 Neurodegeneration, ataxia and retinitis
pigmentosa (NARP) 304
52 Pearson syndrome 309
53 The mitochondrial DNA depletion
syndromes: Mitochondrial DNA
polymerase deficiency /
by Robert Naviaux 314
PART SIX Disorders of Carbohydrate
Metabolism 321
54 Galactosemia 322
55 Glycogenosis type la / von Gierke
disease / Glucose 6 phosphate
deficiency 330
56 Glycogenesis type II / Pompe /
Lysosomal a glucosidase deficiency 341
57 Amylo l,6 glucosidase (debrancher)
deficiency / Glycogenosis type III 348
PART SEVEN Peroxisomal Disorders 357
58 Adrenoleukodystrophy 358
59 Neonatal adrenoleukodystrophy 366
PART EIGHT Disorders of Purine
Metabolism 375
60 Lesch Nyhan disease 376
61 Non Lesch Nyhan variants of HPRT 383
62 Adenine phosphoribosyltransferase
(APRT) deficiency 389
63 Phosphoribosylpyrophosphate
synthetase and its abnormalities 393
64 Adenosine deaminase deficiency 396
65 Adenylosuccinate lyase deficiency 401
PART NINE Disorders of Transport
and Mineral Metabolism 405
66 Cystinuria 406
67 Cystinosis 413
68 Hartnup disease 420
69 Histidinuria 423
70 Menkes disease 425
71 Wilson disease 431
PART TEN Mucopolysaccharidoses 439
11 Hurler disease / Mucopolysaccharidosis
type IH (MPSIH) / a L Iduronidase
deficiency 440
73 Scheie and Hurler Scheie diseases /
Mucopolysaccharidosis IS and I H/S oc
iduronidase deficiency 449
74 Hunter disease / Mucopoly¬
saccharidosis type II (MPS II) /
Iduronate sulfatase deficiency 455
75 Sanfillipo disease / Mucopoly¬
saccharidosis type III (MPS III) 462
76 Morquio syndrome / Mucopoly¬
saccharidosis type IV (MPS IV) /
Keratan sulfaturia 469
77 Maroteaux Lamy disease /
Mucopolysaccharidosis VI (MPS VI)
/ N acetylgalactosamine 4 sulfatase
deficiency 475
78 Sly disease / P Glucuronidase deficiency /
Mucopolysaccharidosis VII (MPS VII) 482
PART ELEVEN Mucolipidoses 487
79 I cell disease / Mucolipidosis II 488
80 Mucolipidosis III / Pseudohurler
polydystrophy / N acetylglucosaminyl
phosphotransferase deficiency 495
PART TWELVE Disorders of
Cholesterol and Neutral Lipid
Metabolism 501
81 Familial hypercholesterolemia 502
82 Mevalonic adduria 510
83 Lipoprotein lipase deficiency /
Type I hyperlipoproteinemia 515
PART THIRTEEN Lipid Storage
Disorders 523
84 Fabry disease 524
85 GM, gangliosidosis / p Galactosidase
deficiency 529
86 Tay Sachs disease / Hexosaminidase
A deficiency 539
87 Sandhoff disease / GM2 gangliosidosis /
Deficiency of hexosaminidase A
and B / P Subunit deficiency 547
88 GM2 activator deficiency / GM2
gangliosidosis deficiency of the
activator protein 554
89 Gaucher disease 557
90 Niemann Pick disease 566
91 Niemann Pick type C disease /
Cholesterol processing abnormality 575
92 Krabbe disease / Galactosylceramide
lipidosis / Globoid cell leukodystrophy 581
93 Wolman disease 586
94 Fucosidosis 592
95 oc Mannosidosis 596
96 Galactosialidosis 602
97 Metachromatic leukodystrophy 608
98 Multiple sulfatase deficiency 614
PART FOURTEEN Miscellaneous 623
99 Carbohydrate deficient glycoprotein
syndrome 624
100 a, Antitrypsin deficiency 630
101 Canavan disease / Aspartoacylase
deficiency 637
102 Glutamyl ribose 5 phosphate storage
disease / ADP ribosyl protein lyase
deficiency 643
103 Ethylmalonic aciduria 646
Appendix: Differential diagnosis of clinical
phenotypes 651
Disorders index 655
Signs and symptoms index 658
|
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| indexdate | 2024-07-09T18:13:54Z |
| institution | BVB |
| isbn | 0412479605 |
| language | English |
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| physical | VIII, 680 S. zahlr. Ill., graph. Darst. |
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| publisher | Chapman & Hall Medical |
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| spelling | Nyhan, William L. Verfasser aut Atlas of metabolic diseases William L. Nyhan and Pinar T. Ozand 1. ed. London [u.a.] Chapman & Hall Medical 1998 VIII, 680 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Metabolism Disorders Atlases Metabolism, Inborn Errors Metabolism, Inborn Errors Atlases Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf (DE-588)4143303-8 Atlas gnd-content Stoffwechselkrankheit (DE-588)4057700-4 s 1\p DE-604 Ozand, Pinar T. Verfasser aut HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007873912&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Nyhan, William L. Ozand, Pinar T. Atlas of metabolic diseases Metabolism Disorders Atlases Metabolism, Inborn Errors Metabolism, Inborn Errors Atlases Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4057700-4 (DE-588)4143303-8 |
| title | Atlas of metabolic diseases |
| title_auth | Atlas of metabolic diseases |
| title_exact_search | Atlas of metabolic diseases |
| title_full | Atlas of metabolic diseases William L. Nyhan and Pinar T. Ozand |
| title_fullStr | Atlas of metabolic diseases William L. Nyhan and Pinar T. Ozand |
| title_full_unstemmed | Atlas of metabolic diseases William L. Nyhan and Pinar T. Ozand |
| title_short | Atlas of metabolic diseases |
| title_sort | atlas of metabolic diseases |
| topic | Metabolism Disorders Atlases Metabolism, Inborn Errors Metabolism, Inborn Errors Atlases Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Metabolism Disorders Atlases Metabolism, Inborn Errors Metabolism, Inborn Errors Atlases Stoffwechselkrankheit Atlas |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007873912&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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