Inborn metabolic diseases: diagnosis and treatment
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
1995
|
| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | XV, 442 S. Ill., graph. Darst. |
| ISBN: | 354058546X |
Internformat
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV010029073 | ||
| 003 | DE-604 | ||
| 005 | 20160617 | ||
| 007 | t | ||
| 008 | 950130s1995 gw ad|| |||| 00||| eng d | ||
| 016 | 7 | |a 943279682 |2 DE-101 | |
| 020 | |a 354058546X |9 3-540-58546-X | ||
| 035 | |a (OCoLC)31607560 | ||
| 035 | |a (DE-599)BVBBV010029073 | ||
| 040 | |a DE-604 |b ger |e rakddb | ||
| 041 | 0 | |a eng | |
| 044 | |a gw |c DE | ||
| 049 | |a DE-355 |a DE-19 |a DE-91 | ||
| 050 | 0 | |a RC627.8 | |
| 082 | 0 | |a 616.3/9042 |2 20 | |
| 084 | |a YQ 5000 |0 (DE-625)154064:12905 |2 rvk | ||
| 084 | |a MED 441f |2 stub | ||
| 084 | |a MED 570f |2 stub | ||
| 245 | 1 | 0 | |a Inborn metabolic diseases |b diagnosis and treatment |c J. Fernandes ... (eds.) |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a Berlin [u.a.] |b Springer |c 1995 | |
| 300 | |a XV, 442 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Literaturangaben | ||
| 650 | 7 | |a Aangeboren afwijkingen |2 gtt | |
| 650 | 2 | |a Erreurs innées du métabolisme - Diagnostic | |
| 650 | 2 | |a Erreurs innées du métabolisme - Thérapeutique | |
| 650 | 2 | |a Maladies métaboliques | |
| 650 | 7 | |a Stofwisselingsziekten |2 gtt | |
| 650 | 4 | |a Metabolism, Inborn Errors |x diagnosis | |
| 650 | 4 | |a Metabolism, Inborn Errors |x therapy | |
| 650 | 4 | |a Metabolism, Inborn errors of | |
| 650 | 0 | 7 | |a Angeborene Krankheit |0 (DE-588)4331107-6 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Stoffwechselkrankheit |0 (DE-588)4057700-4 |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 DNB Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=006650614&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 943 | 1 | |a oai:aleph.bib-bvb.de:BVB01-006650614 | |
Datensatz im Suchindex
| _version_ | 1808046658523496448 |
|---|---|
| adam_text |
CONTENTS
PART
I
DIAGNOSIS
AND
TREATMENT:
GENERAL
PRINCIPLES
1
CLINICAL
APPROACH
TO
INHERITED
METABOLIC
DISEASES
J.-M.
S
AUDUBRAY
,
H.
O
GIER
,
AND
C.
C
HARPENTIER
.
3
2
DIAGNOSTIC
PROCEDURES:
FUNCTION
TESTS
AND
POSTMORTEM
PROTOCOL
J.
F
ERNANDES
AND
J.-M.
S
AUDUBRAY
.
41
3
EMERGENCY
TREATMENTS
H.
O
GIER
AND
J.-M.
S
AUDUBRAY
.
47
4
PSYCHOSOCIAL
CARE
OF
THE
CHILD
AND
FAMILY
J.
C.
H
ARRIS
.
57
PART
II
CARBOHYDRATE
METABOLISM
5
GLYCOGEN
STORAGE
DISEASES
J.
F
ERNANDES
AND
Y.-T.
C
HEN
.
71
6
DISORDERS
OF
GALACTOSE
METABOLISM
R.
G
ITZELMANN
.
87
7
DISORDERS
OF
FRUCTOSE
METABOLISM
G.
V
AN
DEN
B
ERGHE
.
95
8
DISORDERS
OF
GLUCONEOGENESIS
N.R.M.
B
UIST
.
101
PART
III
MITOCHONDRIAL
ENERGY
METABOLISM
9
THE
PYRUVATE
DEHYDROGENASE
COMPLEX
AND
TRICARBOXYLIC
ACID
CYCLE
D.S.
K
ERR
AND
A.B.
Z
INN
.
109
10
THE
RESPIRATORY
CHAIN
A.
M
UNNICH
.
121
11
DISORDERS
OF
FATTY
ACID
OXIDATION
C.A.
S
TANLEY
.
133
VIII
CONTENTS
PART
IV
AMINOACIDS
12
HYPERPHENYLALANINAEMIAS
I.
S
MITH
AND
D.P.
B
RENTON
.
147
13
TYROSINE
E.A.
K
VITTINGEN
,
P.T.
C
LAYTON
,
AND
J.V.
L
EONARD
.
161
14
UREA
CYCLE
DISORDERS
J.V.
L
EONARD
.
167
15
HOMOCYSTINURIA
DUE
TO
CYSTATHIONINE
/3-SYNTHASE
DEFICIENCY
AND
RELATED
DISORDERS
G.
A
NDRIA
AND
G.
S
EBASTIO
.
177
16
ORNITHINE
V.E.
S
HIH
.
183
17
NONKETOTIC
HYPERGLYCINEMIA
K.
T
ADA
.
191
PART
V
PEPTIDE
METABOLISM
18
DISORDERS
OF
THE
GAMMA
GLUTAMYL
CYCLE
A.
L
ARSSON
.
197
19
DISORDERS
OF
SMALL
PEPTIDES
J.
J
AEKEN
.
201
PART
VI
ORGANIC
ACIDS
20
BRANCHED-CHAIN
ORGANIC
ACIDURIAS
H.
O
GIER
,
U.
W
ENDEL
,
AND
J.-M.
S
AUDUBRAY
.
207
21
KETOLYSIS
DEFECTS
J.-M.
S
AUDUBRAY
,
N.
S
PECOLA
,
AND
C.
C
HARPENTIER
.
223
22
GLUTARIC
ACIDURIA
TYPE
I
AND
RELATED
CEREBRAL
ORGANIC
ACID
DISORDERS
G.F.
H
OFFMANN
.
229
PART
VII
VITAMIN-RESPONSIVE
DISORDERS
23
BIOTIN-RESPONSIVE
MULTIPLE
CARBOXYLASE
DEFICIENCY
R.
B
AUMGARTNER
AND
T.
S
UORMALA
.
239
24
INHERITED
DISORDERS
OF
COBALAMIN
AND
FOLATE
ABSORPTION
AND
METABOLISM
D.S.
R
OSENBLATT
AND
M.I.
S
HEVELL
.
247
CONTENTS
IX
PART
VIII
LIPIDS
25
DYSLIPIDEMIAS
G.
A
SSMANN
,
A.
VON
E
CKARDSTEIN
,
AND
P.
C
ULLEN
.
261
PART
IX
NUCLEIC
ACIDS
26
DISORDERS
OF
PURINE
AND
PYRIMIDINE
METABOLISM
G.
V
AN
DEN
B
ERGHE
AND
M.F.
V
INCENT
.
289
PART
X
NEUROTRANSMITTERS
27
DISORDERS
OF
NEUROTRANSMITTERS
J.
J
AEKEN
AND
C.
J
AKOBS
.
305
PART
XI
METALS
28
COPPER:
WILSON
AND
MENKES
DISEASES
D.M.
D
ANKS
.
317
29
GENETIC
DEFECTS
RELATED
TO
METALS
OTHER
THAN
COPPER
I.
L
OMBECK
.
325
PART
XII
PORPHYRINS
AND
HEME
30
PORPHYRIAS
Y.
N
ORDMANN
.
333
31
INBORN
ERRORS
OF
BILE
ACID
SYNTHESIS
P.T.
C
LAYTON
.
341
32
BILIRUBIN
N.
Y
AZIGI
AND
W.F.
B
ALISTRERI
.
349
PART
XIII
MEMBRANE
TRANSPORT
33
ALPHA-L-ANTITRYPSIN
DEFICIENCY
D.J.F.
F
EIST
.
361
34
TRANSPORT
DEFECTS
OF
AMINO
ACIDS
AT
THE
CELL
MEMBRANE:
CYSTINURIA,
HARTNUP
DISEASE,
AND
LYSINURIC
PROTEIN
INTOLERANCE
O.
S
IMELL
AND
K.
P
ARTO
.
365
PART
XIV
ORGANELLE
DISORDERS:
LYSOSOMES,
GOLGI
AND
PRE-GOLGI
SYSTEMS,
PEROXISOMES
35
SPHINGOLIPIDS
P.G.
B
ARTH
.
375
X
CONTENTS
36
MUCOPOLYSACCHARIDES
AND
OLIGOSACCHARIDES
M.
B
ECK
AND
J.
S
PRANGER
.
383
37
CYSTINOSIS
M.
B
ROYER
.
389
38
CARBOHYDRATE-DEFICIENT
GLYCOPROTEIN
SYNDROMES
J.
J
AEKEN
.
395
39
PEROXISOMAL
DISORDERS
B.T.
P
OLL
-T
HE
AND
J.-M.
S
AUDUBRAY
.
399
40
OXALOSIS
(PRIMARY
HYPEROXALURIA)
M.F.
G
AGNADOUX
AND
M.
B
ROYER
.
411
PART
XV
NEW
TRENDS
OF
TREATMENT
41
LIVER
TRANSPLANTATION
O.
B
ERNARD
.
417
42
BONE
MARROW
TRANSPLANTATION
P.M.
H
OOGERBRUGGE
AND
J.M.J.J.
V
OSSEN
.
423
43
SOMATIC
GENE
THERAPY
F.D.
L
EDLEY
.
429
SUBJECT
INDEX
.
439 |
| any_adam_object | 1 |
| author_GND | (DE-588)133265595 |
| building | Verbundindex |
| bvnumber | BV010029073 |
| callnumber-first | R - Medicine |
| callnumber-label | RC627 |
| callnumber-raw | RC627.8 |
| callnumber-search | RC627.8 |
| callnumber-sort | RC 3627.8 |
| callnumber-subject | RC - Internal Medicine |
| classification_rvk | YQ 5000 |
| classification_tum | MED 441f MED 570f |
| ctrlnum | (OCoLC)31607560 (DE-599)BVBBV010029073 |
| dewey-full | 616.3/9042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.3/9042 |
| dewey-search | 616.3/9042 |
| dewey-sort | 3616.3 49042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 2. ed. |
| format | Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>00000nam a2200000 c 4500</leader><controlfield tag="001">BV010029073</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20160617</controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">950130s1995 gw ad|| |||| 00||| eng d</controlfield><datafield tag="016" ind1="7" ind2=" "><subfield code="a">943279682</subfield><subfield code="2">DE-101</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">354058546X</subfield><subfield code="9">3-540-58546-X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)31607560</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV010029073</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-355</subfield><subfield code="a">DE-19</subfield><subfield code="a">DE-91</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RC627.8</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616.3/9042</subfield><subfield code="2">20</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 441f</subfield><subfield code="2">stub</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">MED 570f</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</subfield><subfield code="c">J. Fernandes ... (eds.)</subfield></datafield><datafield tag="250" ind1=" " ind2=" "><subfield code="a">2. ed.</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Berlin [u.a.]</subfield><subfield code="b">Springer</subfield><subfield code="c">1995</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">XV, 442 S.</subfield><subfield code="b">Ill., graph. Darst.</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=" " ind2="7"><subfield code="a">Aangeboren afwijkingen</subfield><subfield code="2">gtt</subfield></datafield><datafield tag="650" ind1=" " ind2="2"><subfield code="a">Erreurs innées du métabolisme - Diagnostic</subfield></datafield><datafield tag="650" ind1=" " ind2="2"><subfield code="a">Erreurs innées du métabolisme - Thérapeutique</subfield></datafield><datafield tag="650" ind1=" " ind2="2"><subfield code="a">Maladies métaboliques</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Stofwisselingsziekten</subfield><subfield code="2">gtt</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Metabolism, Inborn Errors</subfield><subfield code="x">diagnosis</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Metabolism, Inborn Errors</subfield><subfield code="x">therapy</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Metabolism, Inborn errors of</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="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="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">DNB 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=006650614&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="943" ind1="1" ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-006650614</subfield></datafield></record></collection> |
| id | DE-604.BV010029073 |
| illustrated | Illustrated |
| indexdate | 2024-08-22T00:47:38Z |
| institution | BVB |
| isbn | 354058546X |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-006650614 |
| oclc_num | 31607560 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-19 DE-BY-UBM DE-91 DE-BY-TUM |
| owner_facet | DE-355 DE-BY-UBR DE-19 DE-BY-UBM DE-91 DE-BY-TUM |
| physical | XV, 442 S. Ill., graph. Darst. |
| publishDate | 1995 |
| publishDateSearch | 1995 |
| publishDateSort | 1995 |
| publisher | Springer |
| record_format | marc |
| spelling | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) 2. ed. Berlin [u.a.] Springer 1995 XV, 442 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Literaturangaben Aangeboren afwijkingen gtt Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten gtt Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd rswk-swf Stoffwechselkrankheit (DE-588)4057700-4 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 DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=006650614&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Inborn metabolic diseases diagnosis and treatment Aangeboren afwijkingen gtt Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten gtt Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4331107-6 (DE-588)4057700-4 |
| title | Inborn metabolic diseases diagnosis and treatment |
| title_auth | Inborn metabolic diseases diagnosis and treatment |
| title_exact_search | Inborn metabolic diseases diagnosis and treatment |
| title_full | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) |
| title_fullStr | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) |
| title_full_unstemmed | Inborn metabolic diseases diagnosis and treatment J. Fernandes ... (eds.) |
| title_short | Inborn metabolic diseases |
| title_sort | inborn metabolic diseases diagnosis and treatment |
| title_sub | diagnosis and treatment |
| topic | Aangeboren afwijkingen gtt Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten gtt Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit (DE-588)4331107-6 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Aangeboren afwijkingen Erreurs innées du métabolisme - Diagnostic Erreurs innées du métabolisme - Thérapeutique Maladies métaboliques Stofwisselingsziekten Metabolism, Inborn Errors diagnosis Metabolism, Inborn Errors therapy Metabolism, Inborn errors of Angeborene Krankheit Stoffwechselkrankheit |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=006650614&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT fernandesjohn inbornmetabolicdiseasesdiagnosisandtreatment |