Inborn metabolic diseases: diagnosis and treatment ; with 57 tables
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
2000
|
| Ausgabe: | 3., rev. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | XII, 467 S. graph. Darst. : 28 cm |
| ISBN: | 354065626X |
Internformat
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV013109327 | ||
| 003 | DE-604 | ||
| 005 | 20140219 | ||
| 007 | t | ||
| 008 | 000404s2000 gw d||| |||| 00||| eng d | ||
| 016 | 7 | |a 957570333 |2 DE-101 | |
| 020 | |a 354065626X |9 3-540-65626-X | ||
| 035 | |a (OCoLC)313836634 | ||
| 035 | |a (DE-599)BVBBV013109327 | ||
| 040 | |a DE-604 |b ger |e rakddb | ||
| 041 | 0 | |a eng | |
| 044 | |a gw |c DE | ||
| 049 | |a DE-M49 |a DE-91 |a DE-355 |a DE-Er8 | ||
| 082 | 0 | |a 616.39042 | |
| 082 | 0 | |a 616.3/9042 | |
| 084 | |a YQ 5000 |0 (DE-625)154064:12905 |2 rvk | ||
| 084 | |a MED 570f |2 stub | ||
| 084 | |a MED 441f |2 stub | ||
| 245 | 1 | 0 | |a Inborn metabolic diseases |b diagnosis and treatment ; with 57 tables |c J. Fernandes ... (eds.) |
| 250 | |a 3., rev. ed. | ||
| 264 | 1 | |a Berlin [u.a.] |b Springer |c 2000 | |
| 300 | |a XII, 467 S. |b graph. Darst. : 28 cm | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Literaturangaben | ||
| 650 | 0 | 7 | |a Stoffwechselkrankheit |0 (DE-588)4057700-4 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |2 gnd |9 rswk-swf |
| 689 | 0 | 0 | |a Stoffwechselkrankheit |0 (DE-588)4057700-4 |D s |
| 689 | 0 | 1 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |D s |
| 689 | 0 | |5 DE-604 | |
| 700 | 1 | |a Fernandes, John |d 1921-2006 |e Sonstige |0 (DE-588)133265595 |4 oth | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008931436&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-008931436 | ||
Datensatz im Suchindex
| _version_ | 1804127808006389760 |
|---|---|
| adam_text | Contents
Part I
Diagnosis and Treatment:
General Principles
1. Clinical Approach
to Inherited Metabolic Diseases
J. M. Saudubray, H. Ogier de Baulny,
and C. Charpentier 3
2. Diagnostic Procedures:
Function Tests and Postmortem Protocol
J. Fernandes, J. M. Saudubray, and J. Huber 43
3. Emergency Treatments
H. Ogier de Baulny and J. M. Saudubray 53
4. Psychosocial Care of the Child and Family
J.C. Harris 63
5. Treatment: Present Status and New Trends
J.H. Walter and J.E. Wraith 75
Part II
Disorders of Carbohydrate Metabolism
6. The Glycogen Storage Diseases
J. Fernandes and G.P.A. Smit 87
7. Disorders of Galactose Metabolism
R. Gitzelmann 103
8. Disorders of Fructose Metabolism
G. van den Berghe 111
9. Persistent Hyperinsulinemic Hypoglycemia
P. de Lonlay and J. M. Saudubray 117
Part III
Disorders of Mitochondrial Energy
Metabolism
10. Disorders of Pyruvate Metabolism
and the Tricarboxylic Acid Cycle
D.S. Kerr, I.D. Wexler, and A.B. Zinn 127
11. Disorders of Fatty Acid Oxidation
C.A. Stanley 139
12. Disorders of Ketogenesis and Ketolysis
A.A.M. Morris 151
13. Defects of the Respiratory Chain
A. Munnich 157
Part IV
Disorders of Amino Acid Metabolism
and Transport
14. The Hyperphenylalaninaemias
I. Smith and P. Lee 171
15. Disorders of Tyrosine Metabolism
E.A. Kvittingen and E. Holme 185
16. Branched Chain Organic Acidurias
H. Ogier de Baulny and J. M. Saudubray 195
17. Disorders of the Urea Cycle
J.V. Leonard 213
18. Disorders of Sulfur Amino Acid Metabolism
G. Andria, B. Fowler, and G. Sebastio 223
19. Disorders of Ornithine
and Creatine Metabolism
V.E. Shih and S. Stockler Ipsiroglu 233
20. Disorders of Lysine Catabolism
and Related Cerebral Organic Acid Disorders
G.F. Hoffmann 241
21. Nonketotic Hyperglycinemia
K. Tada 255
22. Disorders of Proline and Serine Metabolism
J. Jaeken 259
23. Transport Defects of Amino Acids
at the Cell Membrane: Cystinuria, Hartnup
Disease, and Lysinuric Protein Intolerance
O. Simell, K. Parto, and K. Nanto Salonen 265
PartV
Vitamin Responsive Disorders
24. Biotin Responsive Multiple Carboxylase
Deficiency
E.R. Baumgartner and T. Suormala 277
25. Disorders of Cobalamin and Folate Transport
and Metabolism
D.S. Rosenblatt 283
Part VI
Neurotransmitter
and Small Peptide Disorders
26. Disorders of Neurotransmission
J. Jaeken, C. Jakobs, and R. Wevers 301
27. Disorders in the Metabolism of Glutathione
and Imidazole Dipeptides
A. Larsson and J. Jaeken 313
Part VII
Disorders of Lipid and Bile Acid Metabolism
28. Dyslipidemias
A. Rodriguez Oquendo and
P.O. Kwiterovich Jr 321
29. Disorders of Cholesterol Synthesis
G.F. Hoffmann and D. Haas 337
30. Disorders of Bile Acid Synthesis
P.T. Clayton 343
Part VIII
Disorders of Nucleic Acid
and Heme Metabolism
31. Disorders of Purine
and Pyrimidine Metabolism
G. Van den Berghe, M. F. Vincent,
and S. Marie 355
32. The Porphyrias
N.G. Egger, D.E. Goeger, and K.E. Anderson 369
Part IX
Disorders of Metal Transport
33. Copper Transport Disorders:
Wilson Disease and Menkes Disease
D.W. Cox and Z. Turner 385
34. Genetic Defects Related
to Metals Other Than Copper
F. Jochum and I. Lombeck 393
Part X
Organelle Related Disorders:
Lysosomes, Peroxisomes, and Golgi
and Pre Golgi Systems
35. Disorders of Sphingolipid Metabolism
P.G. Barth 401
36. Mucopolysaccharidoses
and Oligosaccharidoses
M. Beck 413
37. Peroxisomal Disorders
B.T. Poll The and J. M. Saudubray 423
38. Congenital Defects of Glycosylation:
Disorders of N Glycan Synthesis
J. Jaeken 433
39. Cystinosis
M. Broyer 439
40. Primary Hyperoxalurias
P. Cochat and M. O. Rolland 445
41. Leukotriene C4 Synthesis Deficiency
E. Mayatepek 453
|
| any_adam_object | 1 |
| author_GND | (DE-588)133265595 |
| building | Verbundindex |
| bvnumber | BV013109327 |
| classification_rvk | YQ 5000 |
| classification_tum | MED 570f MED 441f |
| ctrlnum | (OCoLC)313836634 (DE-599)BVBBV013109327 |
| dewey-full | 616.39042 616.3/9042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.39042 616.3/9042 |
| dewey-search | 616.39042 616.3/9042 |
| dewey-sort | 3616.39042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 3., rev. ed. |
| format | Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01623nam a2200433 c 4500</leader><controlfield tag="001">BV013109327</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20140219 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">000404s2000 gw d||| |||| 00||| eng d</controlfield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">957570333</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">354065626X</subfield><subfield code="9">3-540-65626-X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)313836634</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV013109327</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">rakddb</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="044" ind1=" " ind2=" "><subfield code="a">gw</subfield><subfield code="c">DE</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-M49</subfield><subfield code="a">DE-91</subfield><subfield code="a">DE-355</subfield><subfield code="a">DE-Er8</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616.39042</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616.3/9042</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">YQ 5000</subfield><subfield code="0">(DE-625)154064:12905</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">MED 570f</subfield><subfield code="2">stub</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">MED 441f</subfield><subfield code="2">stub</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Inborn metabolic diseases</subfield><subfield code="b">diagnosis and treatment ; with 57 tables</subfield><subfield code="c">J. Fernandes ... (eds.)</subfield></datafield><datafield tag="250" ind1=" " ind2=" "><subfield code="a">3., rev. ed.</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Berlin [u.a.]</subfield><subfield code="b">Springer</subfield><subfield code="c">2000</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">XII, 467 S.</subfield><subfield code="b">graph. Darst. : 28 cm</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Literaturangaben</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Stoffwechselkrankheit</subfield><subfield code="0">(DE-588)4057700-4</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Angeborene Krankheit</subfield><subfield code="0">(DE-588)4331107-6</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Stoffwechselkrankheit</subfield><subfield code="0">(DE-588)4057700-4</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Angeborene Krankheit</subfield><subfield code="0">(DE-588)4331107-6</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="5">DE-604</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Fernandes, John</subfield><subfield code="d">1921-2006</subfield><subfield code="e">Sonstige</subfield><subfield code="0">(DE-588)133265595</subfield><subfield code="4">oth</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">HBZ Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008931436&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-008931436</subfield></datafield></record></collection> |
| id | DE-604.BV013109327 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T18:39:13Z |
| institution | BVB |
| isbn | 354065626X |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-008931436 |
| oclc_num | 313836634 |
| open_access_boolean | |
| owner | DE-M49 DE-BY-TUM DE-91 DE-BY-TUM DE-355 DE-BY-UBR DE-Er8 |
| owner_facet | DE-M49 DE-BY-TUM DE-91 DE-BY-TUM DE-355 DE-BY-UBR DE-Er8 |
| physical | XII, 467 S. graph. Darst. : 28 cm |
| publishDate | 2000 |
| publishDateSearch | 2000 |
| publishDateSort | 2000 |
| publisher | Springer |
| record_format | marc |
| spelling | Inborn metabolic diseases diagnosis and treatment ; with 57 tables J. Fernandes ... (eds.) 3., rev. ed. Berlin [u.a.] Springer 2000 XII, 467 S. graph. Darst. : 28 cm txt rdacontent n rdamedia nc rdacarrier Literaturangaben Stoffwechselkrankheit (DE-588)4057700-4 gnd rswk-swf Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 s Angeborene Krankheit (DE-588)4331107-6 s DE-604 Fernandes, John 1921-2006 Sonstige (DE-588)133265595 oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008931436&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Inborn metabolic diseases diagnosis and treatment ; with 57 tables Stoffwechselkrankheit (DE-588)4057700-4 gnd Angeborene Krankheit (DE-588)4331107-6 gnd |
| subject_GND | (DE-588)4057700-4 (DE-588)4331107-6 |
| title | Inborn metabolic diseases diagnosis and treatment ; with 57 tables |
| title_auth | Inborn metabolic diseases diagnosis and treatment ; with 57 tables |
| title_exact_search | Inborn metabolic diseases diagnosis and treatment ; with 57 tables |
| title_full | Inborn metabolic diseases diagnosis and treatment ; with 57 tables J. Fernandes ... (eds.) |
| title_fullStr | Inborn metabolic diseases diagnosis and treatment ; with 57 tables J. Fernandes ... (eds.) |
| title_full_unstemmed | Inborn metabolic diseases diagnosis and treatment ; with 57 tables J. Fernandes ... (eds.) |
| title_short | Inborn metabolic diseases |
| title_sort | inborn metabolic diseases diagnosis and treatment with 57 tables |
| title_sub | diagnosis and treatment ; with 57 tables |
| topic | Stoffwechselkrankheit (DE-588)4057700-4 gnd Angeborene Krankheit (DE-588)4331107-6 gnd |
| topic_facet | Stoffwechselkrankheit Angeborene Krankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=008931436&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT fernandesjohn inbornmetabolicdiseasesdiagnosisandtreatmentwith57tables |