Physician's guide to the laboratory diagnosis of metabolic diseases:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
2002
|
| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXXVII, 716 S. Ill., graph. Darst. 1 CD-ROM (12 cm) |
| ISBN: | 354042542X |
Internformat
MARC
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| 245 | 1 | 0 | |a Physician's guide to the laboratory diagnosis of metabolic diseases |c N. Blau ... (eds.) |
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Datensatz im Suchindex
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|---|---|
| adam_text | Contents
Part One: Approach to Diagnosis 1
A Simple Tests in Urine and Blood 3
Nenad Blau, Milan E. Blaskovics, Marinus Duran
B Amino Acid Analysis 11
Vivian E. Shih
C Organic Acid Analysis 27
Georg E Hoffmann, Patrik Feyh
D Miscellaneous Analyses 45
Marinus Duran
E Tandem Mass Spectrometry in Clinical Diagnosis 57
David S. Millington
F Proton NMR Spectroscopy of Body Fluids 77
Ron Wevers, Udo Engelke, Sytske Moolenaar
Part Two: Disorders 87
1 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism . . 89
Nenad Blau, Luisa Bonafe, Milan E. Blaskovics
2 Disorders of Neurotransmitter Metabolism 107
Keith Hyland
3 Disorders of GABA, Glycine, Serine and Proline 123
Jaak Jaeken, Tom de Koning, Johan van Hove
4 Disorders of Tyrosine Degradation 141
Elisabeth Holme
XXVI Contents
5 Disorders of Histidine Metabolism 155
Yasuhiro Kuroda, Michinori Ito
6 Disorders of Leucine Metabolism 165
K. Michael Gibson, Orly N. Elpeleg, D. Holmes Morton,
Rebecca S. Wappner
7 Disorders of Valine Isoleucine Metabolism 191
William L. Nyhan, K. Michael Gibson
8 Various Organic Acidurias 215
CORNELIS JAKOBS, NANDA M. VERHOEVEN,
Marjo S. van der Knaap
9 Disorders of the y Glutamyl Cycle , . • 233
Agne Larsson, Ellinor Ristoff
10 Disorders of Sulfur Amino Acids 243
Flemming Skovby
11 Inherited Hyperammonemias 261
Claude Bachmann
12 Disorders of Ornithine, Lysine and Tryptophan 277
HlLDEGARD PRZYREMBEL
13 Defective Transcellular Transport of Amino Acids 301
SUSANNE SCHWEITZER KRANTZ
14 Disorders of Mitochondrial Fatty Acid Oxidation
and Ketone Body Handling 309
Marinus Duran
15 Disorders of Carbohydrate and Glycogen Metabolism . 335
Thomas F. Roe, Won G. Ng, Peter G.A. Smit
16 Disorders of Glucose Transport 357
Rene Santer
17 Disorders of Glycerol Metabolism 369
Katrina M. Dipple, Edward R. B. McCabe
18 The Mucopolysaccharidoses 377
Jerry N. Thompson
Contents XXVII
19 Oligosaccharidoses and Related Disorders 399
Generoso Andria, Giancarlo Parenti
20 Congenital Disorders of Glycosylation 411
Jaak Jaeken, Gert Matthijs
21 Cystinosis 423
Erik Harms
22 Other Storage Disorders 431
Michael Beck
23 Purine and Pyrimidine Disorders 445
H. Anne Simmonds, Albert H. van Gennip
24 Disorders of Creatine Metabolism 467
Sylvia Stockler Ipsiroglu, Carmen Stromberger,
Chike B. Item, Adolf Muhl
25 Peroxisomal Disorders 481
Ronald J.A. Wanders, Peter G. Barth, Bwee Tien Poll The
26 Hyperoxaluria 509
Christian von Schnakenburg, Kay Latta
27 Mitochondrial Energy Metabolism 519
Jan Smeitink, Bert van den Heuvel, Frans Trijbels,
wlm ruitenbeek, rob sengers
28 Genetic Dyslipoproteinemias 537
Daniel J. Rader
29 Disorders of Steroid Synthesis and Metabolism 551
Anna Biason Lauber
30 Inborn Errors of Cholesterol Biosynthesis 573
Lisa E. Kratz, Richard I. Kelley
31 The Porphyrias 593
Elisabeth I. Minder, Xiaoye Schneider Yin
32 Disorders of Bile Acid Synthesis 615
Peter T. Clayton, Hugh A. Lemonde
|
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| indexdate | 2024-07-09T19:00:42Z |
| institution | BVB |
| isbn | 354042542X |
| language | English |
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| physical | XXXVII, 716 S. Ill., graph. Darst. 1 CD-ROM (12 cm) |
| publishDate | 2002 |
| publishDateSearch | 2002 |
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| spelling | Physician's guide to the laboratory diagnosis of metabolic diseases N. Blau ... (eds.) 2. ed. Berlin [u.a.] Springer 2002 XXXVII, 716 S. Ill., graph. Darst. 1 CD-ROM (12 cm) txt rdacontent n rdamedia nc rdacarrier Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Labormedizin (DE-588)4073931-4 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Stoffwechselkrankheit (DE-588)4057700-4 s Labormedizin (DE-588)4073931-4 s DE-604 Blau, Nenad 1946- Sonstige (DE-588)11474632X oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009784890&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Physician's guide to the laboratory diagnosis of metabolic diseases Stoffwechselkrankheit (DE-588)4057700-4 gnd Labormedizin (DE-588)4073931-4 gnd |
| subject_GND | (DE-588)4057700-4 (DE-588)4073931-4 (DE-588)4143413-4 |
| title | Physician's guide to the laboratory diagnosis of metabolic diseases |
| title_auth | Physician's guide to the laboratory diagnosis of metabolic diseases |
| title_exact_search | Physician's guide to the laboratory diagnosis of metabolic diseases |
| title_full | Physician's guide to the laboratory diagnosis of metabolic diseases N. Blau ... (eds.) |
| title_fullStr | Physician's guide to the laboratory diagnosis of metabolic diseases N. Blau ... (eds.) |
| title_full_unstemmed | Physician's guide to the laboratory diagnosis of metabolic diseases N. Blau ... (eds.) |
| title_short | Physician's guide to the laboratory diagnosis of metabolic diseases |
| title_sort | physician s guide to the laboratory diagnosis of metabolic diseases |
| topic | Stoffwechselkrankheit (DE-588)4057700-4 gnd Labormedizin (DE-588)4073931-4 gnd |
| topic_facet | Stoffwechselkrankheit Labormedizin Aufsatzsammlung |
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