Phenylketonuria and BH4 deficiencies:
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| Format: | Buch |
| Sprache: | English |
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Bremen ; London ; Boston
UNI-MED Verlag AG
[2021]
|
| Ausgabe: | 4th edition |
| Schriftenreihe: | UNI-MED Science
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| Beschreibung: | 136 Seiten Illustrationen, Diagramme 25 cm, 381 g |
| ISBN: | 9783837416015 3837416011 |
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| 100 | 1 | |a Blau, Nenad |d 1946- |e Verfasser |0 (DE-588)11474632X |4 aut | |
| 245 | 1 | 0 | |a Phenylketonuria and BH4 deficiencies |c Nenad Blau ; in collaboration with Alberto B. Burlina, Barbara K. Burton, Claire Cannet, Cary O. Harding, Harvey L. Levy, Uta Lichter-Konecki, Nicola Longo, Anita MacDonald, Aurora Martinez, Francjan J. van Spronsen, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Annemiek von Wegberg |
| 250 | |a 4th edition | ||
| 264 | 1 | |a Bremen ; London ; Boston |b UNI-MED Verlag AG |c [2021] | |
| 300 | |a 136 Seiten |b Illustrationen, Diagramme |c 25 cm, 381 g | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 0 | |a UNI-MED Science | |
| 650 | 0 | 7 | |a Phenylketonurie |0 (DE-588)4174246-1 |2 gnd |9 rswk-swf |
| 653 | |a BH4 Deficiencies | ||
| 653 | |a blood phenylalanine | ||
| 653 | |a Phenylketonuria | ||
| 653 | |a Phenylketonuria;BH4 Deficiencies;blood phenylalanine concentration | ||
| 655 | 7 | |0 (DE-588)4143413-4 |a Aufsatzsammlung |2 gnd-content | |
| 689 | 0 | 0 | |a Phenylketonurie |0 (DE-588)4174246-1 |D s |
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| 700 | 1 | |a Burlina, Alberto |e Verfasser |0 (DE-588)1237465575 |4 aut | |
| 700 | 1 | |a Burton, Barbara K. |e Verfasser |0 (DE-588)123687918X |4 aut | |
| 700 | 1 | |a Cannet, Claire |e Verfasser |0 (DE-588)1209490897 |4 aut | |
| 710 | 2 | |a UNI-MED Verlag AG |0 (DE-588)1065561733 |4 pbl | |
| 776 | 0 | 8 | |i Erscheint auch als |n Online-Ausgabe |t Phenylketonuria and BH4 Deficiencies |b 4th edition 2021 |d Bremen : UNI-MED Verlag AG, 2021 |h Online-Ressource, 135 Seiten, 34 Illustrationen |
| 780 | 0 | 0 | |i Vorangegangen ist |z 9783837415261 |
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Datensatz im Suchindex
| _version_ | 1804184143376941056 |
|---|---|
| adam_text | CONTENTS
9
CONTENTS
HISTORY,
EPIDEMIOLOGY
AND
CLASSIFICATION
OF
PKU
13
1.1.
HISTORICAL
BACKGROUND
...................................................................................................................
13
1.2.
EPIDEMIOLOGY
.................................................................................................................................
15
1.3.
CLASSIFICATION
AND
NOMENCLATURE
OF
PKU
.....................................................................................
15
THE
PHENYLALANINE
HYDROXYLATING
SYSTEM
18
2.1.
PHENYLALANINE
HYDROXYLASE
(PAH)
.................................................................................................
18
2.1.1.
THE
PHENYLALANINE
HYDROXYLASE
SYSTEM
...........................................................................................
18
2.1.2.
TETRAHYDROBIOPTERIN
........................................................................................................................
20
2.1.3.
DNAJC1
2,
A
HSP40
CO-CHAPERON
OF
PAH
...........................................................................................
22
PKU
DUE
TO
PHENYLALANINE
HYDROXYLASE
DEFICIENCY
25
3.1.
PHYSICAL
CHARACTERISTICS
OF
PATIENTS
WITH
PKU
...............................................................................
25
3.2.
NEUROCOGNITIVE
DEFICITS
IN
PKU
....................................................................................................
25
3.3.
CANDIDATE
CLINICAL
MECHANISMS
OF
NEUROCOGNITIVE
DEFICITS
........................................................
28
3.4.
RATIONALE
FOR
LIFELONG
TREATMENT
OF
PKU
TO
MINIMISE
NEUROLOGICAL
DAMAGE
.....................................
30
3.5.
NON-CEREBRAL
MANIFESTATIONS
OF
(TREATED)
PKU
............................................................................
30
3.6.
MATERNAL
PKU
.................................................................................................................................
30
3.7.
ASSESSMENT
OF
A
PATIENT
WITH
PKU
...............................................................................................
31
YYI
TETRAHYDROBIOPTERIN
DEFICIENCIES
38
4.1.
OVERVIEW
.......................................................................................................................................
38
4.2.
CLINICAL
FEATURES
.............................................................................................................................
38
4.2.1.
GENERAL
CLINICAL
SYMPTOMS
...............................................................................................................
38
4.2.2.
SYMPTOMS
RELATED
TO
SPECIFIC
DEFECTS
.............................................................................................
39
4.3.
DEVELOPMENTAL
OUTCOMES
.............................................................................................................
41
DIAGNOSIS
OF
HYPERPHENYLALANINAEMIAS
43
5.1.
NEWBORN
SCREENING
......................................................................................................................
43
5.1.1.
HISTORY
OF
NEWBORN
SCREENING.........................................................................................................
43
5.1.2.
SCREENING
METHODS
..........................................................................................................................
44
5.1.3.
GENERAL
ISSUES
RELATING
TO
SCREENING
................................................................................................
45
5.2.
DIFFERENTIAL
DIAGNOSIS
OF
PKU
........................................................................................................
45
5.2.1.
DISORDERS
OF
BH4
SYNTHESIS
AND
RECYCLING
(BH4
DEFICIENCY)
.............................................................
45
5.2.2.
BH4-RESPONSIVE
HPA/PKU
................................................................................................................
48
JI
DIETARY
MANAGEMENT
OF
PKU
55
6.1.
AIMS
OF
DIETARY
MANAGEMENT
.......................................................................................................
55
6.2.
INITIATION
OF
DIETARY
THERAPY
.........................................................................................................
55
6.3.
MANAGEMENT
GUIDELINES
..............................................................................................................
56
6.4.
MONITORING
....................................................................................................................................
56
6.5.
DELIVERY
OF
TREATMENT
BY
THE
HEALTHCARE
TEAM
............................................................................
57
6.6.
TRANSITION
OF
CARE
..........................................................................................................................
57
6.7.
APPLICATION
OF
DIETARY
MANAGEMENT
...........................................................................................
57
10
CONTENTS
6.8.
OPTIMISING
GROWTH
AND
NUTRITIONAL
OUTCOME
..............................................................................
62
6.9.
PATIENT/CAREGIVER
EDUCATION
.........................................................................................................
62
6.10.
GAINING
AND
MAINTAINING
DIETARY
ADHERENCE
...............................................................................
62
6.11.
PREGNANCY
AND
BREASTFEEDING
...............
......................................................................................
66
6.12.
ALTERNATIVE
TREATMENT
OPTIONS
.......................................................................................................
66
PHARMACOLOGIC
MANAGEMENT
OF
PKU
WITH
SAPROPTERIN
DIHYDROCHLORIDE
(BH4)
71
7.1.
THE
PHENOMENON
OF
BH4
RESPONSIVENESS
...................................................................................
71
7.1.1.
INTRODUCTION
TO
SAPROPTERIN/BH4
.......................................................................................................
71
7.1.2.
THERAPEUTIC
INDICATIONS
FOR
SAPROPTERIN
..........................................................................................
71
7.1.3.
ADMINISTERING
SAPROPTERIN
...............................................................................................................
72
7.1.4.
PHARMACOKINETICS
OF
SAPROPTERIN
.....................................................................................................
73
7.2.
THERAPEUTIC
PROFILE
OF
SAPROPTERIN
IN
GENERAL
POPULATIONS
OF
PATIENTS
WITH
PKU
....................
73
7.2.1.
CLINICAL
EFFICACY
.................................................................................................................................
73
7.2.2.
TOLERABILITY
AND
SAFETY
IN
GENERAL
POPULATIONS
OF
PATIENTS
WITH
PKU
..............................................
76
7.2.3.
NEUROPHYSIOLOGIC
OUTCOMES
...........................................................................................................
76
7.2.4.
QUALITY
OF
LIFE
....................................................................................................................................
77
7.3.
SAPROPTERIN
IN
SPECIAL
POPULATIONS
OF
PATIENTS
WITH
PKU
............................................................
77
7.3.1.
CHILDREN
..........................................................................................................................................
77
7.3.2.
PREGNANT
WOMEN
.............................................................................................................................
77
7.3.3.
PATIENTS
WITH
WELL-CONTROLLED
BLOOD
PHE
..........................................................................................
78
7.4.
ADHERENCE
TO
SAPROPTERIN
.............................................................................................................
78
7.5.
FUTURE
DEVELOPMENTS
...................................................................................................................
78
ENZYME
SUBSTITUTION
THERAPY
IN
PKU
82
8.1.
RATIONALE
FOR
ENZYME
REPLACEMENT
THERAPY
WITHIN
THE
MANAGEMENT
OF
PKU
...........................
82
8.2.
HUMAN
STUDIES
OF
PEGVALIASE
.......................................................................................................
83
IF
GENE
THERAPY
FOR
PKU
88
9.1.
EXPERIMENTAL
GENE
THERAPY
FOR
PKU
USING
THE
CLASSICAL
PKU
MOUSE
MODEL
............................
88
9.2.
OVERVIEW
OF
(PLANNED)
CLINICAL
TRIALS
.............................................................................................
88
BH
MANAGEMENT
OF
TETRAHYDROBIOPTERIN
(BH4)
DEFICIENCIES
91
10.1.
OVERVIEW
........................................................................................................................................
91
10.2.
FIRST-LINE
TREATMENT
.......................................................................................................................
92
10.2.1.
DIETA
RY
TREATMENT
............................................................................................................................
92
10.2.2.
TETRAHYDROBIOPTERIN
(SAPROPTERIN
DIHYDROCHLORIDE)
........................................................................
94
10.2.3.
L-DOPA
WITH
OR
WITHOUT
CARBIDOPA/BENSERAZIDE
..............................................................................
94
10.2.4.
5-HYDROXYTRYPTOPHAN
.....................................................................................................................
94
10.2.5.
FOLINICACID
.......................................................................................................................................
94
10.3.
SECOND-LINE
PHARMACOLOGIC
TREATMENT
.........................................................................................
95
10.3.1.
DOPAMINE
AGONISTS
..........................................................................................................................
95
10.3.2.
MONOAMINE
OXIDASE
INHIBITORS
(MAOI;
SELEGILINE
AND
RASAGILINE)
.....................................................
95
10.4.
THIRD-LINE
TREATMENT
.....................................................................................................................
95
10.4.1.
CHRONIC
DRUG
TREATMENTS
.................................................................................................................
95
10.4.2.
ACUTE
DRUG
TREATMENTS
...................................................................................................................
95
10.4.3.
DRUGS
TO
AVOID
IN
BH4
DISORDERS
.......................................................................................................
96
10.5.
INFORMATION
FROM
THE
BIODEF
DATABASE
........................................................................................
96
CONTENTS
11
US
PHENYLALANINE
HYDROXYLASE
DEFICIENCY
DIAGNOSIS
AND
MANAGEMENT
GUIDELINE
98
11.1.
INTRODUCTION
..................................................................................................................................
98
11.2.
ELEMENTS
OF
THE
ACMG
GUIDELINE
..................................................................................................
99
11.2.1.
EVIDENCE
REVIEW
..............................................................................................................................
99
11.2.2.
RECOMMENDED
PHE
LEVEL
.................................................................................................................
99
11.2.3.
GENERAL
RECOMMENDATIONS
..............................................................................................................
99
11.3.
FUTURE
ISSUES
...............................................................................................................................
101
EUROPEAN
GUIDELINES
FOR
THE
DIAGNOSIS
AND
MANAGEMENT
OF
PATIENTS
WITH
PHENYLKETONURIA
103
12.1.
INTRODUCTION
AND
BACKGROUND
....................................................................................................
103
12.2.
OVERVIEW
OF
KEY
RECOMMENDATIONS
............................................................................................
103
GENETICS
OF
PKU
AND
DNAJC1
2
DEFICIENCY
109
13.1.
MENDELIAN
INHERITANCE
.................................................................................................................
109
13.2.
PAH
GENOTYPE
AND
SEVERITY
OF
PKU
.............................................................................................
110
13.2.1.
LOCATIONS
OF
VARIATIONS
IN
THE
PAH
GENE
........................................................................................
110
13.2.2.
THE
PKU
PHENOTYPE
AND
SEVERITY
OF
HYPERPHENYLALANINAEMIA
.....................................................
110
13.2.3.
PAH
GENOTYPE
AND
BH4-SENSITIVE
PKU
...........................................................................................
112
13.3.
GENOTYPES
ASSOCIATED
WITH
DNAJC1
2
DEFICIENCY
.....................................................................
114
GENETICS
OF
BH4
DEFICIENCIES
117
14.1.
OVERVIEW
......................................................................................................................................
117
14.2.
GTP
CYCLOHYDROLASE
I
(GCH1)
......................................................................................................
117
14.3.
6-PYRUVOYL-TETRAHYDROPTERIN
SYNTHASE
(PTS)
..............................................................................
118
14.4.
DIHYDROPTERIDINE
REDUCTASE
(QDPR)
..........................................................................................
118
14.5.
SEPIAPTERIN
REDUCTASE
(SPR)
.......................................................................................................
119
14.6.
PTERIN-4A-CARBINOLAMINE
DEHYDRATASE
(PCBD1)
.........................................................................
119
METABOLOMICS
RESEARCH
IN
PHENYLKETONURIA
(PKU)
121
15.1.
BACKGROUND
.................................................................................................................................
121
15.2.
GENERAL
PROBLEMS
IN
METABOLOMIC
ANALYSIS
...............................................................................
121
15.3.
APPLICATION
OF
METABOLOMICS
STUDIES
IN
PKU
RESEARCH
...............................................................
122
RESOURCES
FOR
PATIENTS
AND
THEIR
FAMILIES
126
16.1.
INTERNATIONAL
PKU
SOCIETIES
.........................................................................................................
126
16.2.
NATIONAL
PKU
SOCIETIES
.................................................................................................................
126
16.3.
ONLINE
INFORMATION
SOURCES
.......................................................................................................
133
16.4.
MANUFACTURERS
AND/OR
SUPPLIERS
OF
SPECIAL
FOODS
FOR
USE
IN
PKU...............................................
134
16.5.
BOOKS
...........................................................................................................................................
134
ABBREVIATIONS
135
INDEX
136
|
| adam_txt |
CONTENTS
9
CONTENTS
HISTORY,
EPIDEMIOLOGY
AND
CLASSIFICATION
OF
PKU
13
1.1.
HISTORICAL
BACKGROUND
.
13
1.2.
EPIDEMIOLOGY
.
15
1.3.
CLASSIFICATION
AND
NOMENCLATURE
OF
PKU
.
15
THE
PHENYLALANINE
HYDROXYLATING
SYSTEM
18
2.1.
PHENYLALANINE
HYDROXYLASE
(PAH)
.
18
2.1.1.
THE
PHENYLALANINE
HYDROXYLASE
SYSTEM
.
18
2.1.2.
TETRAHYDROBIOPTERIN
.
20
2.1.3.
DNAJC1
2,
A
HSP40
CO-CHAPERON
OF
PAH
.
22
PKU
DUE
TO
PHENYLALANINE
HYDROXYLASE
DEFICIENCY
25
3.1.
PHYSICAL
CHARACTERISTICS
OF
PATIENTS
WITH
PKU
.
25
3.2.
NEUROCOGNITIVE
DEFICITS
IN
PKU
.
25
3.3.
CANDIDATE
CLINICAL
MECHANISMS
OF
NEUROCOGNITIVE
DEFICITS
.
28
3.4.
RATIONALE
FOR
LIFELONG
TREATMENT
OF
PKU
TO
MINIMISE
NEUROLOGICAL
DAMAGE
.
30
3.5.
NON-CEREBRAL
MANIFESTATIONS
OF
(TREATED)
PKU
.
30
3.6.
MATERNAL
PKU
.
30
3.7.
ASSESSMENT
OF
A
PATIENT
WITH
PKU
.
31
YYI
TETRAHYDROBIOPTERIN
DEFICIENCIES
38
4.1.
OVERVIEW
.
38
4.2.
CLINICAL
FEATURES
.
38
4.2.1.
GENERAL
CLINICAL
SYMPTOMS
.
38
4.2.2.
SYMPTOMS
RELATED
TO
SPECIFIC
DEFECTS
.
39
4.3.
DEVELOPMENTAL
OUTCOMES
.
41
DIAGNOSIS
OF
HYPERPHENYLALANINAEMIAS
43
5.1.
NEWBORN
SCREENING
.
43
5.1.1.
HISTORY
OF
NEWBORN
SCREENING.
43
5.1.2.
SCREENING
METHODS
.
44
5.1.3.
GENERAL
ISSUES
RELATING
TO
SCREENING
.
45
5.2.
DIFFERENTIAL
DIAGNOSIS
OF
PKU
.
45
5.2.1.
DISORDERS
OF
BH4
SYNTHESIS
AND
RECYCLING
(BH4
DEFICIENCY)
.
45
5.2.2.
BH4-RESPONSIVE
HPA/PKU
.
48
JI
DIETARY
MANAGEMENT
OF
PKU
55
6.1.
AIMS
OF
DIETARY
MANAGEMENT
.
55
6.2.
INITIATION
OF
DIETARY
THERAPY
.
55
6.3.
MANAGEMENT
GUIDELINES
.
56
6.4.
MONITORING
.
56
6.5.
DELIVERY
OF
TREATMENT
BY
THE
HEALTHCARE
TEAM
.
57
6.6.
TRANSITION
OF
CARE
.
57
6.7.
APPLICATION
OF
DIETARY
MANAGEMENT
.
57
10
CONTENTS
6.8.
OPTIMISING
GROWTH
AND
NUTRITIONAL
OUTCOME
.
62
6.9.
PATIENT/CAREGIVER
EDUCATION
.
62
6.10.
GAINING
AND
MAINTAINING
DIETARY
ADHERENCE
.
62
6.11.
PREGNANCY
AND
BREASTFEEDING
.
.
66
6.12.
ALTERNATIVE
TREATMENT
OPTIONS
.
66
PHARMACOLOGIC
MANAGEMENT
OF
PKU
WITH
SAPROPTERIN
DIHYDROCHLORIDE
(BH4)
71
7.1.
THE
PHENOMENON
OF
BH4
RESPONSIVENESS
.
71
7.1.1.
INTRODUCTION
TO
SAPROPTERIN/BH4
.
71
7.1.2.
THERAPEUTIC
INDICATIONS
FOR
SAPROPTERIN
.
71
7.1.3.
ADMINISTERING
SAPROPTERIN
.
72
7.1.4.
PHARMACOKINETICS
OF
SAPROPTERIN
.
73
7.2.
THERAPEUTIC
PROFILE
OF
SAPROPTERIN
IN
GENERAL
POPULATIONS
OF
PATIENTS
WITH
PKU
.
73
7.2.1.
CLINICAL
EFFICACY
.
73
7.2.2.
TOLERABILITY
AND
SAFETY
IN
GENERAL
POPULATIONS
OF
PATIENTS
WITH
PKU
.
76
7.2.3.
NEUROPHYSIOLOGIC
OUTCOMES
.
76
7.2.4.
QUALITY
OF
LIFE
.
77
7.3.
SAPROPTERIN
IN
SPECIAL
POPULATIONS
OF
PATIENTS
WITH
PKU
.
77
7.3.1.
CHILDREN
.
77
7.3.2.
PREGNANT
WOMEN
.
77
7.3.3.
PATIENTS
WITH
WELL-CONTROLLED
BLOOD
PHE
.
78
7.4.
ADHERENCE
TO
SAPROPTERIN
.
78
7.5.
FUTURE
DEVELOPMENTS
.
78
ENZYME
SUBSTITUTION
THERAPY
IN
PKU
82
8.1.
RATIONALE
FOR
ENZYME
REPLACEMENT
THERAPY
WITHIN
THE
MANAGEMENT
OF
PKU
.
82
8.2.
HUMAN
STUDIES
OF
PEGVALIASE
.
83
IF
GENE
THERAPY
FOR
PKU
88
9.1.
EXPERIMENTAL
GENE
THERAPY
FOR
PKU
USING
THE
CLASSICAL
"PKU"
MOUSE
MODEL
.
88
9.2.
OVERVIEW
OF
(PLANNED)
CLINICAL
TRIALS
.
88
BH
MANAGEMENT
OF
TETRAHYDROBIOPTERIN
(BH4)
DEFICIENCIES
91
10.1.
OVERVIEW
.
91
10.2.
FIRST-LINE
TREATMENT
.
92
10.2.1.
DIETA
RY
TREATMENT
.
92
10.2.2.
TETRAHYDROBIOPTERIN
(SAPROPTERIN
DIHYDROCHLORIDE)
.
94
10.2.3.
L-DOPA
WITH
OR
WITHOUT
CARBIDOPA/BENSERAZIDE
.
94
10.2.4.
5-HYDROXYTRYPTOPHAN
.
94
10.2.5.
FOLINICACID
.
94
10.3.
SECOND-LINE
PHARMACOLOGIC
TREATMENT
.
95
10.3.1.
DOPAMINE
AGONISTS
.
95
10.3.2.
MONOAMINE
OXIDASE
INHIBITORS
(MAOI;
SELEGILINE
AND
RASAGILINE)
.
95
10.4.
THIRD-LINE
TREATMENT
.
95
10.4.1.
CHRONIC
DRUG
TREATMENTS
.
95
10.4.2.
ACUTE
DRUG
TREATMENTS
.
95
10.4.3.
DRUGS
TO
AVOID
IN
BH4
DISORDERS
.
96
10.5.
INFORMATION
FROM
THE
BIODEF
DATABASE
.
96
CONTENTS
11
US
PHENYLALANINE
HYDROXYLASE
DEFICIENCY
DIAGNOSIS
AND
MANAGEMENT
GUIDELINE
98
11.1.
INTRODUCTION
.
98
11.2.
ELEMENTS
OF
THE
ACMG
GUIDELINE
.
99
11.2.1.
EVIDENCE
REVIEW
.
99
11.2.2.
RECOMMENDED
PHE
LEVEL
.
99
11.2.3.
GENERAL
RECOMMENDATIONS
.
99
11.3.
FUTURE
ISSUES
.
101
EUROPEAN
GUIDELINES
FOR
THE
DIAGNOSIS
AND
MANAGEMENT
OF
PATIENTS
WITH
PHENYLKETONURIA
103
12.1.
INTRODUCTION
AND
BACKGROUND
.
103
12.2.
OVERVIEW
OF
KEY
RECOMMENDATIONS
.
103
GENETICS
OF
PKU
AND
DNAJC1
2
DEFICIENCY
109
13.1.
MENDELIAN
INHERITANCE
.
109
13.2.
PAH
GENOTYPE
AND
SEVERITY
OF
PKU
.
110
13.2.1.
LOCATIONS
OF
VARIATIONS
IN
THE
PAH
GENE
.
110
13.2.2.
THE
PKU
PHENOTYPE
AND
SEVERITY
OF
HYPERPHENYLALANINAEMIA
.
110
13.2.3.
PAH
GENOTYPE
AND
BH4-SENSITIVE
PKU
.
112
13.3.
GENOTYPES
ASSOCIATED
WITH
DNAJC1
2
DEFICIENCY
.
114
GENETICS
OF
BH4
DEFICIENCIES
117
14.1.
OVERVIEW
.
117
14.2.
GTP
CYCLOHYDROLASE
I
(GCH1)
.
117
14.3.
6-PYRUVOYL-TETRAHYDROPTERIN
SYNTHASE
(PTS)
.
118
14.4.
DIHYDROPTERIDINE
REDUCTASE
(QDPR)
.
118
14.5.
SEPIAPTERIN
REDUCTASE
(SPR)
.
119
14.6.
PTERIN-4A-CARBINOLAMINE
DEHYDRATASE
(PCBD1)
.
119
METABOLOMICS
RESEARCH
IN
PHENYLKETONURIA
(PKU)
121
15.1.
BACKGROUND
.
121
15.2.
GENERAL
PROBLEMS
IN
METABOLOMIC
ANALYSIS
.
121
15.3.
APPLICATION
OF
METABOLOMICS
STUDIES
IN
PKU
RESEARCH
.
122
RESOURCES
FOR
PATIENTS
AND
THEIR
FAMILIES
126
16.1.
INTERNATIONAL
PKU
SOCIETIES
.
126
16.2.
NATIONAL
PKU
SOCIETIES
.
126
16.3.
ONLINE
INFORMATION
SOURCES
.
133
16.4.
MANUFACTURERS
AND/OR
SUPPLIERS
OF
SPECIAL
FOODS
FOR
USE
IN
PKU.
134
16.5.
BOOKS
.
134
ABBREVIATIONS
135
INDEX
136 |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
| author | Blau, Nenad 1946- Burlina, Alberto Burton, Barbara K. Cannet, Claire |
| author_GND | (DE-588)11474632X (DE-588)1237465575 (DE-588)123687918X (DE-588)1209490897 |
| author_facet | Blau, Nenad 1946- Burlina, Alberto Burton, Barbara K. Cannet, Claire |
| author_role | aut aut aut aut |
| author_sort | Blau, Nenad 1946- |
| author_variant | n b nb a b ab b k b bk bkb c c cc |
| building | Verbundindex |
| bvnumber | BV048301113 |
| ctrlnum | (OCoLC)1263168501 (DE-599)DNB1238163793 |
| dewey-full | 616.399 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.399 |
| dewey-search | 616.399 |
| dewey-sort | 3616.399 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| discipline_str_mv | Medizin |
| edition | 4th edition |
| format | Book |
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| genre | (DE-588)4143413-4 Aufsatzsammlung gnd-content |
| genre_facet | Aufsatzsammlung |
| id | DE-604.BV048301113 |
| illustrated | Illustrated |
| index_date | 2024-07-03T20:06:31Z |
| indexdate | 2024-07-10T09:34:39Z |
| institution | BVB |
| institution_GND | (DE-588)1065561733 |
| isbn | 9783837416015 3837416011 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-033680901 |
| oclc_num | 1263168501 |
| open_access_boolean | |
| owner | DE-19 DE-BY-UBM |
| owner_facet | DE-19 DE-BY-UBM |
| physical | 136 Seiten Illustrationen, Diagramme 25 cm, 381 g |
| publishDate | 2021 |
| publishDateSearch | 2021 |
| publishDateSort | 2021 |
| publisher | UNI-MED Verlag AG |
| record_format | marc |
| series2 | UNI-MED Science |
| spelling | Blau, Nenad 1946- Verfasser (DE-588)11474632X aut Phenylketonuria and BH4 deficiencies Nenad Blau ; in collaboration with Alberto B. Burlina, Barbara K. Burton, Claire Cannet, Cary O. Harding, Harvey L. Levy, Uta Lichter-Konecki, Nicola Longo, Anita MacDonald, Aurora Martinez, Francjan J. van Spronsen, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Annemiek von Wegberg 4th edition Bremen ; London ; Boston UNI-MED Verlag AG [2021] 136 Seiten Illustrationen, Diagramme 25 cm, 381 g txt rdacontent n rdamedia nc rdacarrier UNI-MED Science Phenylketonurie (DE-588)4174246-1 gnd rswk-swf BH4 Deficiencies blood phenylalanine Phenylketonuria Phenylketonuria;BH4 Deficiencies;blood phenylalanine concentration (DE-588)4143413-4 Aufsatzsammlung gnd-content Phenylketonurie (DE-588)4174246-1 s DE-604 Burlina, Alberto Verfasser (DE-588)1237465575 aut Burton, Barbara K. Verfasser (DE-588)123687918X aut Cannet, Claire Verfasser (DE-588)1209490897 aut UNI-MED Verlag AG (DE-588)1065561733 pbl Erscheint auch als Online-Ausgabe Phenylketonuria and BH4 Deficiencies 4th edition 2021 Bremen : UNI-MED Verlag AG, 2021 Online-Ressource, 135 Seiten, 34 Illustrationen Vorangegangen ist 9783837415261 B:DE-101 application/pdf https://d-nb.info/1238163793/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033680901&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p dnb 20211005 DE-101 https://d-nb.info/provenance/plan#dnb |
| spellingShingle | Blau, Nenad 1946- Burlina, Alberto Burton, Barbara K. Cannet, Claire Phenylketonuria and BH4 deficiencies Phenylketonurie (DE-588)4174246-1 gnd |
| subject_GND | (DE-588)4174246-1 (DE-588)4143413-4 |
| title | Phenylketonuria and BH4 deficiencies |
| title_auth | Phenylketonuria and BH4 deficiencies |
| title_exact_search | Phenylketonuria and BH4 deficiencies |
| title_exact_search_txtP | Phenylketonuria and BH4 deficiencies |
| title_full | Phenylketonuria and BH4 deficiencies Nenad Blau ; in collaboration with Alberto B. Burlina, Barbara K. Burton, Claire Cannet, Cary O. Harding, Harvey L. Levy, Uta Lichter-Konecki, Nicola Longo, Anita MacDonald, Aurora Martinez, Francjan J. van Spronsen, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Annemiek von Wegberg |
| title_fullStr | Phenylketonuria and BH4 deficiencies Nenad Blau ; in collaboration with Alberto B. Burlina, Barbara K. Burton, Claire Cannet, Cary O. Harding, Harvey L. Levy, Uta Lichter-Konecki, Nicola Longo, Anita MacDonald, Aurora Martinez, Francjan J. van Spronsen, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Annemiek von Wegberg |
| title_full_unstemmed | Phenylketonuria and BH4 deficiencies Nenad Blau ; in collaboration with Alberto B. Burlina, Barbara K. Burton, Claire Cannet, Cary O. Harding, Harvey L. Levy, Uta Lichter-Konecki, Nicola Longo, Anita MacDonald, Aurora Martinez, Francjan J. van Spronsen, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Annemiek von Wegberg |
| title_short | Phenylketonuria and BH4 deficiencies |
| title_sort | phenylketonuria and bh4 deficiencies |
| topic | Phenylketonurie (DE-588)4174246-1 gnd |
| topic_facet | Phenylketonurie Aufsatzsammlung |
| url | https://d-nb.info/1238163793/04 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033680901&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT blaunenad phenylketonuriaandbh4deficiencies AT burlinaalberto phenylketonuriaandbh4deficiencies AT burtonbarbarak phenylketonuriaandbh4deficiencies AT cannetclaire phenylketonuriaandbh4deficiencies AT unimedverlagag phenylketonuriaandbh4deficiencies |
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