Pompe Disease:
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Bremen
UNI-MED
2021
|
| Ausgabe: | 3rd edition |
| Schriftenreihe: | UNI-MED Science
|
| Schlagworte: | |
| Online-Zugang: | Inhaltstext Inhaltsverzeichnis Inhaltsverzeichnis |
| Beschreibung: | 160 Seiten Illustrationen 25 cm, 450 g |
| ISBN: | 9783837424331 3837424332 |
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MARC
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| 100 | 1 | |a Reuser, Arnold J.J. |e Verfasser |0 (DE-588)1258294966 |4 aut | |
| 245 | 1 | 0 | |a Pompe Disease |c Arnold J.J. Reuser, Benedikt Schoser ; in collaboration with Atze J. Bergsma, Nadine A.M.E. van der Beek, Linda E.M. van den Berg, Alexander Broomfield, Esther Brusse [und weiteren] |
| 250 | |a 3rd edition | ||
| 264 | 1 | |a Bremen |b UNI-MED |c 2021 | |
| 300 | |a 160 Seiten |b Illustrationen |c 25 cm, 450 g | ||
| 336 | |b txt |2 rdacontent | ||
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| 650 | 0 | 7 | |a Glykogenose |0 (DE-588)4157737-1 |2 gnd |9 rswk-swf |
| 653 | |a Morbus Pompe | ||
| 653 | |a Pompe Disease | ||
| 653 | |a lysosomal storage disorder | ||
| 653 | |a Morbus Pompe;Pompe Disease;lysosomal storage disorder | ||
| 689 | 0 | 0 | |a Glykogenose |0 (DE-588)4157737-1 |D s |
| 689 | 0 | 1 | |a Typ 2 |0 (DE-588)4326601-0 |D s |
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| 700 | 1 | |a Schoser, Benedikt |e Verfasser |0 (DE-588)17274007X |4 aut | |
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| 776 | 0 | 8 | |i Erscheint auch als |n Online-Ausgabe |a Reuser, Arnold J.J. |t Pompe Disease |b 3rd edition |d Bremen : UNI-MED Verlag AG, 2022 |h Online-Ressource, 161 Seiten, 64 Illustrationen |
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Datensatz im Suchindex
| _version_ | 1804184446827495424 |
|---|---|
| adam_text | CONTENTS
13
CONTENTS
INTRODUCTION
17
1.1.
HISTORY
AND
TERMINOLOGY
...............................................................................................................
17
1.2.
POMPE
DISEASE
AS
LYSOSOMAL
GLYCOGEN
STORAGE
DISORDER
.........................................................
19
1.3.
EPIDEMIOLOGY
.................................................................................................................................
20
FROM
GENETIC
DEFECT
TO
CLINICAL
SYMPTOMS
23
2.1.
IN
GENERAL
.......................................................................................................................................
23
2.2.
FROM
THE
GAA
GENE
TO
FUNCTIONAL
LYSOSOMAL
GAA
....................................................................
24
2.2.1.
GAA
PRE-MRNA
SPLICING
...................................................................................................................
24
2.2.2.
TRANSLATION,
POST-TRANSLATIONAL
PROCESSING
AND
INTRACELLULAR
TRANSPORT
...........................................
25
2.3.
FROM
GAA
DEFICIENCY
TO
CELLULAR
PATHOLOGY
................................................................................
27
2.3.1.
GAA
DEFICIENCY
AND
ENSUING
CELLULAR
DAMAGE
......................................................................................
27
2.3.2.
RESCUE
OF
DAMAGED
MUSCLE
TISSUE
BY
SATELLITE
CELLS
......................................................................
29
2.4.
THE
GENOTYPE-PHENOTYPE
CORRELATION
........................................................................................
29
2.5.
THE
POMPE
VARIANT
DATABASE
AND
THE
POMPE
REGISTRY
.............................................................
32
2.6.
SUMMARY
........................................................................................................................................
33
AUTOPHAGY
AND
ITS
ROLE
IN
THE
PATHOGENESIS
OF
POMPE
DISEASE
38
3.1.
AUTOPHAGY:
BACKGROUND
..............................................................................................................
38
3.2.
AUTOPHAGY
IN
POMPE
DISEASE:
FOCUS
ON
SKELETAL
MUSCLE
..........................................................
40
3.3.
CONCLUSION
....................................................................................................................................
43
CLINICAL
SPECTRUM
46
4.1.
CLASSIC
INFANTILE
POMPE
DISEASE
....................................................................................................
46
4.1.1.
CLINICAL
PRESENTATION,
DIAGNOSIS,
AND
NATURAL
COURSE
OF
DISEASE
......................................................
46
4.1.2.
THE
NEW
PHENOTYPE
.........................................................................................................................
50
4.2.
CHILDHOOD
POMPE
DISEASE
...........................................................................................................
53
4.3.
ADULT
POMPE
DISEASE
...................................................................................................................
55
4.3.1.
CLINICAL
FINDINGS
................................................................................................................................
55
IB
DIAGNOSIS
65
5.1.
CLINICAL
CHEMISTRY
..........................................................................................................................
65
5.2.
MUSCLE
IMAGING
PROCEDURES
.........................................................................................................
66
5.2.1.
INFANTS
AND
CHILDREN
WITH
POMPE
DISEASE........................................................................................
66
5.2.2.
ADULT
POMPE
DISEASE
.......................................................................................................................
67
5.3.
EXAMINATION
OF
THE
CEREBRAL
VESSELS
............................................................................................
69
5.4.
EXAMINATION
OF
CARDIAC
FUNCTION
.................................................................................................
70
5.5.
EXAMINATION
OF
PULMONARY
FUNCTION
............................................................................................
71
5.6.
ELECTROMYOGRAPHIC
EXAMINATION
..................................................................................................
71
5.7.
MUSCLE
BIOPSY
...............................................................................................................................
71
5.8.
MEASUREMENT
OF
ENZYME
ACTIVITY
.................................................................................................
74
5.9.
DNA
ANALYSIS
.................................................................................................................................
75
14
CONTENTS
PRENATAL
DIAGNOSIS,
POPULATION
SCREENING
AND
COUNSELLING
82
6.1.
INTRODUCTION
....................................................................................................................................
82
6.2.
PRENATAL
DIAGNOSIS
.........................................................................................................................
82
6.3.
PREIMPLANTATION
GENETIC
TESTING
(PGT)
.......................................................................................
83
6.4.
NEWBORN
AND
POPULATION
SCREENING
............................................................................................
84
DIFFERENTIAL
DIAGNOSIS
OF
POMPE
DISEASE
88
7.1.
DIFFERENTIAL
DIAGNOSIS
OF
CLASSIC
INFANTILE
POMPE
DISEASE
..........................................................
88
7.2.
DIFFERENTIAL
DIAGNOSIS
OF
CHILDHOOD
POMPE
DISEASE
..................................................................
90
7.3.
DIFFERENTIAL
DIAGNOSIS
OF
POMPE
DISEASE
IN
ADULTS
......................................................................
92
7.3.1.
HYPERCKEMIA
...................................................................................................................................
92
7.3.2.
FATIGUE
AND
MYALGIA
.........................................................................................................................
92
7.3.3.
PROXIMAL
AND
AXIAL
MUSCLE
WEAKNESS
...............................................................................................
93
7.3.4.
RIGID
SPINE
SYNDROME
......................................................................................................................
94
7.3.5.
RESPIRATORY
IMPAIRMENT
..................................................................................................................
94
RESPIRATORY
IMPAIRMENT
IN
POMPE
DISEASE
97
8.1.
WEAKNESS
OF
THE
RESPIRATORY
MUSCLE
SYSTEM
IN
POMPE
DISEASE
..................................................
97
8.1.1.
RESPIRATORY
IMPAIRMENT
IN
CLASSIC
INFANTILE
POMPE
DISEASE
............................................................
97
8.1.2.
RESPIRATORY
IMPAIRMENT
IN
ADULT
POMPE
DISEASE
............................................................................
97
8.1.3.
CONSEQUENCES
OF
RESPIRATORY
MUSCLE
WEAKNESS
..............................................................................
98
8.1.4.
THE
COURSE
OF
RESPIRATORY
MUSCLE
WEAKNESS
....................................................................................
99
8.2.
RESPIRATORY
FUNCTION
TESTING
.........................................................................................................
99
8.2.1.
PULMONARY
FUNCTION
TESTS
(PFTS)
......................................................................................................
99
8.2.2.
RESPIRATORY
MUSCLE
FUNCTION
AND
MANOMETRY
................................................................................
99
8.2.3.
POLYSOMNOGRAPHY
.........................................................................................................................
100
8.3.
MANAGEMENT
OF
RESPIRATORY
INSUFFICIENCY
..................................................................................
101
8.3.1.
RESPIRATORY
MUSCLE
TRAINING
(RMT)
.................................................................................................
101
8.3.2.
MECHANICAL
VENTILATION
...................................................................................................................
101
8.3.3.
COUGH
AUGMENTATION
TECHNIQUES
.................................................................................................
102
8.3.4.
RESPIRATORY
FUNCTION
UNDER
ENZYME
REPLACEMENT
THERAPY
...........................................................
102
ENZYME
REPLACEMENT
THERAPY
IN
POMPE
DISEASE
105
9.1.
THE
HISTORY
AND
DEVELOPMENT
OF
ERT
WITH
A
FOCUS
ON
POMPE
DISEASE
...................................
105
9.2.
BASIC
PRINCIPLES
OF
ERT
.................................................................................................................
108
9.3.
ENZYME
REPLACEMENT
THERAPY
IN
INFANTS
..................................................................................
111
9.3.1.
THE
FIRST
TRIALS
.................................................................................................................................
111
9.3.2.
ERT
FOR
INFANTS
AND
CHILDREN
IN
CLINICAL
PRACTICE:
ACHIEVEMENTS
AND
UNMET
MEDICAL
NEEDS
........
114
9.3.3.
DOSING
............................................................................................................................................
116
9.3.4.
CRIM
STATUS
....................................................................................................................................
117
9.3.5.
ANTIBODY
FORMATION
......................................................................................................................
117
9.4.
IMMUNOMODULATION
UNDER
ENZYME
REPLACEMENT
THERAPY
.....................................................
118
9.5.
ENZYME
REPLACEMENT
THERAPY
IN
CHILDREN
................................................................................
122
9.6.
ENZYME
REPLACEMENT
THERAPY
IN
ADULTS
....................................................................................
124
9.6.1.
ALGLUCOSIDASE
ALFA
STUDIES
IN
ADULTS:
LATE
ONSET
TREATMENT
STUDY
(LOTS)
.....................................
124
9.6.2.
ALGLUCOSIDASE
ALFA
STUDIES
IN
ADULTS:
REAL
WORLD
DATA
..................................................................
125
9.6.3.
ALGLUCOSIDASE
ALFA
STUDIES
IN
ADULTS:
1
0-YEAR
DATA
AND
UNMET
NEEDS
..........................................
126
9.6.4.
SECOND
GENERATION
ERT
.................................................................................................................
126
9.7.
GENE
THERAPY
...............................................................................................................................
128
CONTENTS
15
EXERCISE
TRAINING
AND
REHABILITATION
MANAGEMENT
IN
POMPE
DISEASE
141
10.1.
EXERCISE
TRAINING
.........................................................................................................................
141
10.1.1.
EXERCISE
...........................................................................................................................................
141
10.1.2.
EFFECT
OF
ENDURANCE
AND
RESISTANCE
EXERCISE
IN
POMPE
DISEASE
....................................................
142
10.1.3.
EXERCISE
IN
TREATMENT
NAIVE
PATIENTS
.............................................................................................
142
10.1.4.
ADVERSE
EFFECTS
OF
EXERCISE
.............................................................................................................
142
10.2.
REHABILITATION
MANAGEMENT
OF
ADULTS
.........................................................................................
143
10.2.1.
PRESYMPTOMATIC
PATIENTS
.................................................................................................................
143
10.2.2.
AMBULANT
AND
LESS
AFFECTED
PATIENTS
............................................................................................
144
10.2.3.
SEVERELY
AFFECTED
AND
WHEELCHAIR-BOUND
PATIENTS
.......................................................................
144
10.2.4.
THE
NEW
PHENOTYPES.......................................................................................................................
144
10.3.
REHABILITATION
MANAGEMENT
OF
PATIENTS
WITH
CLASSIC
INFANTILE
POMPE
DISEASE
.......................
145
YY
DIETARY
ASPECTS
OF
POMPE
DISEASE
149
11.1.
BODY
MASS
INDEX
AND
BODY
COMPOSITION
..................................................................................
149
11.2.
PROTEIN
DEGRADATION
AND
ENERGY
EXPENDITURE
.............................................................................
150
11.3.
OPTIMAL
COMPOSITION
OF
DIET
IN
POMPE
DISEASE
.........................................................................
151
11.4.
SEPARATE
SUPPLEMENTATION
OF
DIFFERENT AMINO
ACIDS
................................................................
151
11.5.
DIETARY
SUGGESTIONS
FOR
POMPE
PATIENTS
IN
CLINICAL
PRACTICE
......................................................
152
YY
PATIENT
SUPPORT
GROUPS
155
YY
ABBREVIATIONS
158
INDEX
159
|
| adam_txt |
CONTENTS
13
CONTENTS
INTRODUCTION
17
1.1.
HISTORY
AND
TERMINOLOGY
.
17
1.2.
POMPE
DISEASE
AS
LYSOSOMAL
GLYCOGEN
STORAGE
DISORDER
.
19
1.3.
EPIDEMIOLOGY
.
20
FROM
GENETIC
DEFECT
TO
CLINICAL
SYMPTOMS
23
2.1.
IN
GENERAL
.
23
2.2.
FROM
THE
GAA
GENE
TO
FUNCTIONAL
LYSOSOMAL
GAA
.
24
2.2.1.
GAA
PRE-MRNA
SPLICING
.
24
2.2.2.
TRANSLATION,
POST-TRANSLATIONAL
PROCESSING
AND
INTRACELLULAR
TRANSPORT
.
25
2.3.
FROM
GAA
DEFICIENCY
TO
CELLULAR
PATHOLOGY
.
27
2.3.1.
GAA
DEFICIENCY
AND
ENSUING
CELLULAR
DAMAGE
.
27
2.3.2.
RESCUE
OF
DAMAGED
MUSCLE
TISSUE
BY
SATELLITE
CELLS
.
29
2.4.
THE
GENOTYPE-PHENOTYPE
CORRELATION
.
29
2.5.
THE
POMPE
VARIANT
DATABASE
AND
THE
POMPE
REGISTRY
.
32
2.6.
SUMMARY
.
33
AUTOPHAGY
AND
ITS
ROLE
IN
THE
PATHOGENESIS
OF
POMPE
DISEASE
38
3.1.
AUTOPHAGY:
BACKGROUND
.
38
3.2.
AUTOPHAGY
IN
POMPE
DISEASE:
FOCUS
ON
SKELETAL
MUSCLE
.
40
3.3.
CONCLUSION
.
43
CLINICAL
SPECTRUM
46
4.1.
CLASSIC
INFANTILE
POMPE
DISEASE
.
46
4.1.1.
CLINICAL
PRESENTATION,
DIAGNOSIS,
AND
NATURAL
COURSE
OF
DISEASE
.
46
4.1.2.
THE
NEW
PHENOTYPE
.
50
4.2.
CHILDHOOD
POMPE
DISEASE
.
53
4.3.
ADULT
POMPE
DISEASE
.
55
4.3.1.
CLINICAL
FINDINGS
.
55
IB
DIAGNOSIS
65
5.1.
CLINICAL
CHEMISTRY
.
65
5.2.
MUSCLE
IMAGING
PROCEDURES
.
66
5.2.1.
INFANTS
AND
CHILDREN
WITH
POMPE
DISEASE.
66
5.2.2.
ADULT
POMPE
DISEASE
.
67
5.3.
EXAMINATION
OF
THE
CEREBRAL
VESSELS
.
69
5.4.
EXAMINATION
OF
CARDIAC
FUNCTION
.
70
5.5.
EXAMINATION
OF
PULMONARY
FUNCTION
.
71
5.6.
ELECTROMYOGRAPHIC
EXAMINATION
.
71
5.7.
MUSCLE
BIOPSY
.
71
5.8.
MEASUREMENT
OF
ENZYME
ACTIVITY
.
74
5.9.
DNA
ANALYSIS
.
75
14
CONTENTS
PRENATAL
DIAGNOSIS,
POPULATION
SCREENING
AND
COUNSELLING
82
6.1.
INTRODUCTION
.
82
6.2.
PRENATAL
DIAGNOSIS
.
82
6.3.
PREIMPLANTATION
GENETIC
TESTING
(PGT)
.
83
6.4.
NEWBORN
AND
POPULATION
SCREENING
.
84
DIFFERENTIAL
DIAGNOSIS
OF
POMPE
DISEASE
88
7.1.
DIFFERENTIAL
DIAGNOSIS
OF
CLASSIC
INFANTILE
POMPE
DISEASE
.
88
7.2.
DIFFERENTIAL
DIAGNOSIS
OF
CHILDHOOD
POMPE
DISEASE
.
90
7.3.
DIFFERENTIAL
DIAGNOSIS
OF
POMPE
DISEASE
IN
ADULTS
.
92
7.3.1.
HYPERCKEMIA
.
92
7.3.2.
FATIGUE
AND
MYALGIA
.
92
7.3.3.
PROXIMAL
AND
AXIAL
MUSCLE
WEAKNESS
.
93
7.3.4.
RIGID
SPINE
SYNDROME
.
94
7.3.5.
RESPIRATORY
IMPAIRMENT
.
94
RESPIRATORY
IMPAIRMENT
IN
POMPE
DISEASE
97
8.1.
WEAKNESS
OF
THE
RESPIRATORY
MUSCLE
SYSTEM
IN
POMPE
DISEASE
.
97
8.1.1.
RESPIRATORY
IMPAIRMENT
IN
CLASSIC
INFANTILE
POMPE
DISEASE
.
97
8.1.2.
RESPIRATORY
IMPAIRMENT
IN
ADULT
POMPE
DISEASE
.
97
8.1.3.
CONSEQUENCES
OF
RESPIRATORY
MUSCLE
WEAKNESS
.
98
8.1.4.
THE
COURSE
OF
RESPIRATORY
MUSCLE
WEAKNESS
.
99
8.2.
RESPIRATORY
FUNCTION
TESTING
.
99
8.2.1.
PULMONARY
FUNCTION
TESTS
(PFTS)
.
99
8.2.2.
RESPIRATORY
MUSCLE
FUNCTION
AND
MANOMETRY
.
99
8.2.3.
POLYSOMNOGRAPHY
.
100
8.3.
MANAGEMENT
OF
RESPIRATORY
INSUFFICIENCY
.
101
8.3.1.
RESPIRATORY
MUSCLE
TRAINING
(RMT)
.
101
8.3.2.
MECHANICAL
VENTILATION
.
101
8.3.3.
COUGH
AUGMENTATION
TECHNIQUES
.
102
8.3.4.
RESPIRATORY
FUNCTION
UNDER
ENZYME
REPLACEMENT
THERAPY
.
102
ENZYME
REPLACEMENT
THERAPY
IN
POMPE
DISEASE
105
9.1.
THE
HISTORY
AND
DEVELOPMENT
OF
ERT
WITH
A
FOCUS
ON
POMPE
DISEASE
.
105
9.2.
BASIC
PRINCIPLES
OF
ERT
.
108
9.3.
ENZYME
REPLACEMENT
THERAPY
IN
INFANTS
.
111
9.3.1.
THE
FIRST
TRIALS
.
111
9.3.2.
ERT
FOR
INFANTS
AND
CHILDREN
IN
CLINICAL
PRACTICE:
ACHIEVEMENTS
AND
UNMET
MEDICAL
NEEDS
.
114
9.3.3.
DOSING
.
116
9.3.4.
CRIM
STATUS
.
117
9.3.5.
ANTIBODY
FORMATION
.
117
9.4.
IMMUNOMODULATION
UNDER
ENZYME
REPLACEMENT
THERAPY
.
118
9.5.
ENZYME
REPLACEMENT
THERAPY
IN
CHILDREN
.
122
9.6.
ENZYME
REPLACEMENT
THERAPY
IN
ADULTS
.
124
9.6.1.
ALGLUCOSIDASE
ALFA
STUDIES
IN
ADULTS:
LATE
ONSET
TREATMENT
STUDY
(LOTS)
.
124
9.6.2.
ALGLUCOSIDASE
ALFA
STUDIES
IN
ADULTS:
REAL
WORLD
DATA
.
125
9.6.3.
ALGLUCOSIDASE
ALFA
STUDIES
IN
ADULTS:
1
0-YEAR
DATA
AND
UNMET
NEEDS
.
126
9.6.4.
SECOND
GENERATION
ERT
.
126
9.7.
GENE
THERAPY
.
128
CONTENTS
15
EXERCISE
TRAINING
AND
REHABILITATION
MANAGEMENT
IN
POMPE
DISEASE
141
10.1.
EXERCISE
TRAINING
.
141
10.1.1.
EXERCISE
.
141
10.1.2.
EFFECT
OF
ENDURANCE
AND
RESISTANCE
EXERCISE
IN
POMPE
DISEASE
.
142
10.1.3.
EXERCISE
IN
TREATMENT
NAIVE
PATIENTS
.
142
10.1.4.
ADVERSE
EFFECTS
OF
EXERCISE
.
142
10.2.
REHABILITATION
MANAGEMENT
OF
ADULTS
.
143
10.2.1.
PRESYMPTOMATIC
PATIENTS
.
143
10.2.2.
AMBULANT
AND
LESS
AFFECTED
PATIENTS
.
144
10.2.3.
SEVERELY
AFFECTED
AND
WHEELCHAIR-BOUND
PATIENTS
.
144
10.2.4.
THE
NEW
PHENOTYPES.
144
10.3.
REHABILITATION
MANAGEMENT
OF
PATIENTS
WITH
CLASSIC
INFANTILE
POMPE
DISEASE
.
145
YY
DIETARY
ASPECTS
OF
POMPE
DISEASE
149
11.1.
BODY
MASS
INDEX
AND
BODY
COMPOSITION
.
149
11.2.
PROTEIN
DEGRADATION
AND
ENERGY
EXPENDITURE
.
150
11.3.
OPTIMAL
COMPOSITION
OF
DIET
IN
POMPE
DISEASE
.
151
11.4.
SEPARATE
SUPPLEMENTATION
OF
DIFFERENT AMINO
ACIDS
.
151
11.5.
DIETARY
SUGGESTIONS
FOR
POMPE
PATIENTS
IN
CLINICAL
PRACTICE
.
152
YY
PATIENT
SUPPORT
GROUPS
155
YY
ABBREVIATIONS
158
INDEX
159 |
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| author | Reuser, Arnold J.J Schoser, Benedikt |
| author_GND | (DE-588)1258294966 (DE-588)17274007X |
| author_facet | Reuser, Arnold J.J Schoser, Benedikt |
| author_role | aut aut |
| author_sort | Reuser, Arnold J.J |
| author_variant | a j r aj ajr b s bs |
| building | Verbundindex |
| bvnumber | BV048488156 |
| ctrlnum | (OCoLC)1347224938 (DE-599)DNB1252089473 |
| dewey-full | 616.3998 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.3998 |
| dewey-search | 616.3998 |
| dewey-sort | 3616.3998 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| discipline_str_mv | Medizin |
| edition | 3rd edition |
| format | Book |
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| id | DE-604.BV048488156 |
| illustrated | Illustrated |
| index_date | 2024-07-03T20:40:50Z |
| indexdate | 2024-07-10T09:39:28Z |
| institution | BVB |
| institution_GND | (DE-588)1065561733 |
| isbn | 9783837424331 3837424332 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-033865687 |
| oclc_num | 1347224938 |
| open_access_boolean | |
| owner | DE-19 DE-BY-UBM |
| owner_facet | DE-19 DE-BY-UBM |
| physical | 160 Seiten Illustrationen 25 cm, 450 g |
| publishDate | 2021 |
| publishDateSearch | 2021 |
| publishDateSort | 2021 |
| publisher | UNI-MED |
| record_format | marc |
| series2 | UNI-MED Science |
| spelling | Reuser, Arnold J.J. Verfasser (DE-588)1258294966 aut Pompe Disease Arnold J.J. Reuser, Benedikt Schoser ; in collaboration with Atze J. Bergsma, Nadine A.M.E. van der Beek, Linda E.M. van den Berg, Alexander Broomfield, Esther Brusse [und weiteren] 3rd edition Bremen UNI-MED 2021 160 Seiten Illustrationen 25 cm, 450 g txt rdacontent n rdamedia nc rdacarrier UNI-MED Science Typ 2 (DE-588)4326601-0 gnd rswk-swf Glykogenose (DE-588)4157737-1 gnd rswk-swf Morbus Pompe Pompe Disease lysosomal storage disorder Morbus Pompe;Pompe Disease;lysosomal storage disorder Glykogenose (DE-588)4157737-1 s Typ 2 (DE-588)4326601-0 s DE-604 Schoser, Benedikt Verfasser (DE-588)17274007X aut UNI-MED Verlag AG (DE-588)1065561733 pbl Erscheint auch als Online-Ausgabe Reuser, Arnold J.J. Pompe Disease 3rd edition Bremen : UNI-MED Verlag AG, 2022 Online-Ressource, 161 Seiten, 64 Illustrationen Vorangegangen ist 9783837413977 X:MVB text/html http://deposit.dnb.de/cgi-bin/dokserv?id=40337a9757cc4b7cbf2dbceb2a6069ff&prov=M&dok_var=1&dok_ext=htm Inhaltstext B:DE-101 application/pdf https://d-nb.info/1252089473/04 Inhaltsverzeichnis DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=033865687&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p dnb 20220530 DE-101 https://d-nb.info/provenance/plan#dnb |
| spellingShingle | Reuser, Arnold J.J Schoser, Benedikt Pompe Disease Typ 2 (DE-588)4326601-0 gnd Glykogenose (DE-588)4157737-1 gnd |
| subject_GND | (DE-588)4326601-0 (DE-588)4157737-1 |
| title | Pompe Disease |
| title_auth | Pompe Disease |
| title_exact_search | Pompe Disease |
| title_exact_search_txtP | Pompe Disease |
| title_full | Pompe Disease Arnold J.J. Reuser, Benedikt Schoser ; in collaboration with Atze J. Bergsma, Nadine A.M.E. van der Beek, Linda E.M. van den Berg, Alexander Broomfield, Esther Brusse [und weiteren] |
| title_fullStr | Pompe Disease Arnold J.J. Reuser, Benedikt Schoser ; in collaboration with Atze J. Bergsma, Nadine A.M.E. van der Beek, Linda E.M. van den Berg, Alexander Broomfield, Esther Brusse [und weiteren] |
| title_full_unstemmed | Pompe Disease Arnold J.J. Reuser, Benedikt Schoser ; in collaboration with Atze J. Bergsma, Nadine A.M.E. van der Beek, Linda E.M. van den Berg, Alexander Broomfield, Esther Brusse [und weiteren] |
| title_short | Pompe Disease |
| title_sort | pompe disease |
| topic | Typ 2 (DE-588)4326601-0 gnd Glykogenose (DE-588)4157737-1 gnd |
| topic_facet | Typ 2 Glykogenose |
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