Inherited disorders of biogenic amines: a practical guide
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| Format: | Buch |
| Sprache: | English |
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Bremen
UNI-MED Verlag
2020
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| Schriftenreihe: | UNI-MED Science
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| 245 | 1 | 0 | |a Inherited disorders of biogenic amines: a practical guide |c Nenad Blau, Georg F. Hoffmann |
| 264 | 1 | |a Bremen |b UNI-MED Verlag |c 2020 | |
| 300 | |a 80 Seiten |b Illustrationen, Diagramme |c 25 cm, 306 g | ||
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Datensatz im Suchindex
| DE-19_call_number | 0760/WD 205.5.A5-2020 B |
|---|---|
| DE-19_location | 55 |
| DE-BY-UBM_katkey | 6097646 |
| DE-BY-UBM_media_number | 99995746449 |
| _version_ | 1823057429069299712 |
| adam_text | CONTENTS
9
CONTENTS
M
RECOGNIZING
DISORDERS
OF
BIOGENIC
AMINES:
AN
INTRODUCTION
12
1.1.
INTRODUCTION
....................................................................................................
12
1.2.
SIGNS
AND
SYMPTOMS
................
12
1.3.
LABORATORY
FINDINGS
.................
13
1.4.
REFERENCES..................................
17
BIOCHEMISTRY
OF
BIOGENIC
AMINES
20
2.1.
REFERENCES
..................
23
3.1.
3.2.
3.3.
3.4.
3.5.
3.6.
TETRAHYDROBIOPTERIN
DEFICIENCIES
PRESENTING
WITH
HYPERPHENYLALANINEMIA
26
INTRODUCTION
26
SIGNS
AND
SYMPTOMS
..........................................................................
26
LABORATORY
FINDINGS.
.......................................................................................................
.....TJ
TREATMENT
OPTIONS
..................................................................................................
28
DRUGS
TO
AVOID
29
REFERENCES................................
29
M
CO-CHAPERONE
DNAJC1
2
DEFICIENCY
32
4.1.
INTRODUCTION
......................
32
4.2.
SIGNS
AND
SYMPTOMS
.........................................................................
32
4.3.
LABORATORY
FINDINGS
...............................................................................
33
4.4.
TREATMENT
OPTIONS.
33
4.5.
REFERENCES..................................................................
33
M
AUTOSOMAL
DOMINANT
DOPA-RESPONSIVE
DYSTONIA
36
5.1.
INTRODUCTION
....................................
36
5.2.
SIGNS
AND
SYMPTOMS
36
5.3.
LABORATORY
FINDINGS
.............
37
5.4.
TREATMENT
OPTIONS
.
38
5.5.
REFERENCES............................................................................40
SEPIAPTERIN
REDUCTASE
DEFICIENCY
44
6.1.
INTRODUCTION
........................................................................................
.44
6.2.
SIGNS
AND
SYMPTOMS
.
44
6.3.
LABORATORY
FINDINGS
.............................................................................................
45
6.4.
T
REAT
MENT
OPTIONS
.............................................................................................
46
6.5.
REFERENCES...............
48
TYROSINE
HYDROXYLASE DEFICIENCY
50
7.1.
INTRODUCTION
..........................................
50
7.2.
SIGNS
AND
SYMPTOMS
........................................................
50
7.3.
LABORATORY
FINDINGS
...............................................................................
50
10
CONTENTS
7.4.
T
REATMENT
OPTIONS
........................................................................................................................
51
7.5.
REFERENCES
.......................................................................................................................................
52
M
AROMATIC
L-AMINO
ACID
DECARBOXYLASE
DEFICIENCY
54
8.1.
INTRODUCTION
...................................................................................................................................54
8.2.
SIGNS
AND
SYMPTOMS
.....................................................................................................................54
8.3.
LABORATORY
FINDINGS
.......................................................................................................................
55
8.4.
T
REATMENT
OPTIONS
.........................................................................................................................
55
8.5.
REFERENCES
......................................................................................................................................
57
M
DOPAMINE
AND
SEROTONIN
TRANSPORT
DISORDERS
60
9.1.
INTRODUCTION
....................................................................................................................................60
9.2.
SIGNS
AND
SYMPTOMS
.....................................................................................................................60
9.3.
LABORATORY
FINDINGS
.......................................................................................................................
60
9.4.
TREATMENT
OPTIONS
........................................................................................................................
61
9.5.
REFERENCES
......................................................................................................................................
63
M
DEFECTS
IN
CATABOLISM
OF
BIOGENIC
AMINES
66
10.1.
INTRODUCTION
...................................................................................................................................
66
10.2.
SIGNS
AND
SYMPTOMS
......................................................................................................................66
10.3.
LABORATORY
FINDINGS
........................................................................................................................66
10.4.
TREATMENT
OPTIONS
.........................................................................................................................
67
10.5.
REFERENCES...................................................................................................................
67
M
DOPAMINE
BETA
HYDROXYLASE
DEFICIENCY
70
11.1.
INTRODUCTION
...................................................................................................................................
70
11.2.
SIGNS
AND
SYMPTOMS
......................................................................................................................
70
11.3.
LABORATORY
FINDINGS
........................................................................
70
11.4.
TREATMENT
OPTIONS
........................................................................................................................
71
11.5.
REFERENCES
......................................................................................................................................
71
RESOURCES
FOR
PROFESSIONALS,
PATIENTS
AND
THEIR
FAMILIES
74
12.1.
INTERNATIONAL
WORKING
GROUP
ON
NEUROTRANSMITTER
RELATED
DISORDERS
......................................
74
12.2.
THE
AADC
RESEARCH
TRUST
(TRUST)
................................................................................................
74
12.3.
LEMBASE:
A
KNOWLEDGEBASE
OF
INBORN
ERRORS
OF
METABOLISM
.....................................................
75
12.4.
NATIONAL
ORGANIZATION
FOR
RARE
DISORDERS
(NORD)
......................................................................
76
INDEX
79
|
| any_adam_object | 1 |
| author | Blau, Nenad 1946- Hoffmann, Georg F. 1957- |
| author_GND | (DE-588)11474632X (DE-588)115652868 |
| author_facet | Blau, Nenad 1946- Hoffmann, Georg F. 1957- |
| author_role | aut aut |
| author_sort | Blau, Nenad 1946- |
| author_variant | n b nb g f h gf gfh |
| building | Verbundindex |
| bvnumber | BV047610332 |
| ctrlnum | (OCoLC)1229033652 (DE-599)DNB1223991598 |
| dewey-full | 616.39 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.39 |
| dewey-search | 616.39 |
| dewey-sort | 3616.39 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Book |
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| id | DE-604.BV047610332 |
| illustrated | Illustrated |
| indexdate | 2025-02-03T17:57:29Z |
| institution | BVB |
| institution_GND | (DE-588)1065561733 |
| isbn | 9783837415957 3837415953 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-032995199 |
| oclc_num | 1229033652 |
| open_access_boolean | |
| owner | DE-19 DE-BY-UBM |
| owner_facet | DE-19 DE-BY-UBM |
| physical | 80 Seiten Illustrationen, Diagramme 25 cm, 306 g |
| publishDate | 2020 |
| publishDateSearch | 2020 |
| publishDateSort | 2020 |
| publisher | UNI-MED Verlag |
| record_format | marc |
| series2 | UNI-MED Science |
| spellingShingle | Blau, Nenad 1946- Hoffmann, Georg F. 1957- Inherited disorders of biogenic amines: a practical guide Biogene Amine (DE-588)4127910-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| subject_GND | (DE-588)4127910-4 (DE-588)4015106-2 (DE-588)4057700-4 |
| title | Inherited disorders of biogenic amines: a practical guide |
| title_auth | Inherited disorders of biogenic amines: a practical guide |
| title_exact_search | Inherited disorders of biogenic amines: a practical guide |
| title_full | Inherited disorders of biogenic amines: a practical guide Nenad Blau, Georg F. Hoffmann |
| title_fullStr | Inherited disorders of biogenic amines: a practical guide Nenad Blau, Georg F. Hoffmann |
| title_full_unstemmed | Inherited disorders of biogenic amines: a practical guide Nenad Blau, Georg F. Hoffmann |
| title_short | Inherited disorders of biogenic amines: a practical guide |
| title_sort | inherited disorders of biogenic amines a practical guide |
| topic | Biogene Amine (DE-588)4127910-4 gnd Erbkrankheit (DE-588)4015106-2 gnd Stoffwechselkrankheit (DE-588)4057700-4 gnd |
| topic_facet | Biogene Amine Erbkrankheit Stoffwechselkrankheit |
| url | https://d-nb.info/1223991598/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=032995199&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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