Lysosomal storage diseases: early diagnosis and new treatments
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Montrouge
Libbey Eurotext
2010
|
| Schriftenreihe: | Mariani Foundation paediatric neurology series
23 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis Klappentext |
| Beschreibung: | VI, 184 S. Ill., graph. Darst. |
| ISBN: | 9782742007790 2742007792 |
Internformat
MARC
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| 008 | 110916s2010 ad|| |||| 00||| eng d | ||
| 020 | |a 9782742007790 |9 978-2-7420-0779-0 | ||
| 020 | |a 2742007792 |9 2-7420-0779-2 | ||
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| 245 | 1 | 0 | |a Lysosomal storage diseases |b early diagnosis and new treatments |c ed. by Rossella Parini and Generoso Andria |
| 264 | 1 | |a Montrouge |b Libbey Eurotext |c 2010 | |
| 300 | |a VI, 184 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 490 | 1 | |a Mariani Foundation paediatric neurology series |v 23 | |
| 650 | 0 | 7 | |a Lysosomale Speicherkrankheit |0 (DE-588)4392684-8 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Kind |0 (DE-588)4030550-8 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
| _version_ | 1804148420459364352 |
|---|---|
| adam_text | Contents
General
aspects
Chapter
1 Lysosomal
storage disorders: commonalities and differences
Luca Astarita, Michelina Sibilio
and
Generoso Andria
3
Chapter
2
Lysosomal storage disorders
—
epidemiology, biochemistry, and genetics:
how to read and interpret biochemical and molecular tests
Mi
rel
la Filocamo and Amelia
Marrone
13
Chapter
3
Organizational and ethical aspects of newborn screening
for lysosomal storage diseases
Carlo Corbetta and
Luisella
Alberti
27
Chapter
4
Pathophysiologic aspects of lysosomal storage disorders
Cinzia
Maria
Bellet
tato,
Rosella
Tomanin
and Maurizio Scarpa
31
Clinical presentations in detail:
Mucopolysaccharidoses
and Anderson-Fabry disease
Chapters Early signs and symptoms for the timely diagnosis of mucopolysaccharidosis
Maria
Luisa Melzi,
Francesca
Furian
and
Rossella
Parim
45
Chapter
6
Anderson-Fabry disease in children
Rossella
Panni
and Francesca Santus
59
Mucopoiysaccharidoses
from the specialists point of view
Chapter
7
Epilepsy in mucopolysaccharidosis: clinical features and outcome
Daniele Grioni,
Margherita Contri, Francesca
Furian,
Miriam
Rigoldi,
Attilio Rovelli and
Rossella
Parìni
73
LYSOSOMAL
STORAGE DISEASES
Chapter
8
Psychological assessment and support for patients
with mucopolysaccharidosis
Milena
Marini
and
Alessio Gamba
81
Chapter
9
Mucopolysaccharidosis:
radiologie
findings
Marco Grimaldi,
Daniela
Di
Marco and Paolo
Remida
89
Chapter
10
Anaesthesia for children with mucopolysaccharidosis
Pablo
Mauricio Ingelmo
and Emre Sahillioglu
99
Chapter
11
Neurosurgical complications and their management
in mucopolysaccharidosis
Carlo Giussani, Sara
Miori
and Erik P. Sganzerla
107
Specific treatments for lysosomal storage diseases
Chapter
12
Enzyme replacement therapy in lysosomal storage disorders:
clinical effects and limitations
Michael Beck
123
Chapter
13
Gaucher
disease: clinical follow-up and management
with individualized treatment
Elena Cassinerio, Irene
Motta
and Maria
Domenica Cappellini
133
Chapter
14
Enzyme replacement therapy in glycogenosis type II
Giovanni
Ciana
and Bruno Bembi
147
Chapter
15
Haematopoietic stem cell transplantation for lysosomal storage diseases
Giovanna Lucchini, Paola Corti
and
Attilio Rovelli
155
Chapter
16
Allogeneic stem cell transplantation for
Hurler
syndrome: graft outcome
and long-term clinical outcomes
Jaap
Jan Boelens and Mieke Aldenhoven 1
63
Chapter
17
Haematopoietic stem cell gene therapy for metachromatic leukodystrophy
Alessandra
Biffi
and
Luigi Naldini
171
vi
Lysosohâl Stqíâge
Diseases
Eäíly
Diagnosis
âhd New
Treatments
Edited by:
Rossella
Panni, Generoso Andria
The last fifteen years have witnessed the extraordinary
evolution of basic and clinical research in the field of fysosc-
mal storage diseases (LSDs), transforming many of them
from dire, untreatable progressive diseases to conditions
that allow for possible cure or mitigation. In addition to the
presently employed techniques of haematopoietic stem ceil
transplantation and enzyme replacement for a number of fysoso-
mal storage diseases, other therapeutic approaches are being
developed that are based on different principles.
The awareness that the efficacy of treatment is greater if adminis¬
tered at the first signs of disease or, even better, during the pre-
symptomatic phase underscores the urgency of early clinical
diagnosis. Efforts are being made to improve the clinical acumen
of paediatricians, paediatric surgeons and neurologists, rheuma-
toiogists, orthopaedists, and other professionals who come into
early contact with children with LSDs. The possibility of
including some of these disorders in routine neonatal screening
is also a matter of discussion.
This volume provides an updated overview of
epidemiologie,
biochemical, genetic, pathogenetic, and clinical aspects of these
disorders and outlines the various treatment options currently
available for the LSDs. The need for patients with rare diseases
like LSDs to be followed-up in a specialized centre is emphasized
in view of the many kinds of multidisciplinary treatment that are
needed to improve the quality of life and survival of these
children.
|
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| id | DE-604.BV039586852 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T00:06:51Z |
| institution | BVB |
| isbn | 9782742007790 2742007792 |
| language | English |
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| physical | VI, 184 S. Ill., graph. Darst. |
| publishDate | 2010 |
| publishDateSearch | 2010 |
| publishDateSort | 2010 |
| publisher | Libbey Eurotext |
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| series | Mariani Foundation paediatric neurology series |
| series2 | Mariani Foundation paediatric neurology series |
| spelling | Lysosomal storage diseases early diagnosis and new treatments ed. by Rossella Parini and Generoso Andria Montrouge Libbey Eurotext 2010 VI, 184 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Mariani Foundation paediatric neurology series 23 Lysosomale Speicherkrankheit (DE-588)4392684-8 gnd rswk-swf Kind (DE-588)4030550-8 gnd rswk-swf Lysosomale Speicherkrankheit (DE-588)4392684-8 s Kind (DE-588)4030550-8 s DE-604 Parini, Rossella Sonstige oth Andria, Generoso Sonstige oth Mariani Foundation paediatric neurology series 23 (DE-604)BV009829063 23 Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024438021&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024438021&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Klappentext |
| spellingShingle | Lysosomal storage diseases early diagnosis and new treatments Mariani Foundation paediatric neurology series Lysosomale Speicherkrankheit (DE-588)4392684-8 gnd Kind (DE-588)4030550-8 gnd |
| subject_GND | (DE-588)4392684-8 (DE-588)4030550-8 |
| title | Lysosomal storage diseases early diagnosis and new treatments |
| title_auth | Lysosomal storage diseases early diagnosis and new treatments |
| title_exact_search | Lysosomal storage diseases early diagnosis and new treatments |
| title_full | Lysosomal storage diseases early diagnosis and new treatments ed. by Rossella Parini and Generoso Andria |
| title_fullStr | Lysosomal storage diseases early diagnosis and new treatments ed. by Rossella Parini and Generoso Andria |
| title_full_unstemmed | Lysosomal storage diseases early diagnosis and new treatments ed. by Rossella Parini and Generoso Andria |
| title_short | Lysosomal storage diseases |
| title_sort | lysosomal storage diseases early diagnosis and new treatments |
| title_sub | early diagnosis and new treatments |
| topic | Lysosomale Speicherkrankheit (DE-588)4392684-8 gnd Kind (DE-588)4030550-8 gnd |
| topic_facet | Lysosomale Speicherkrankheit Kind |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024438021&sequence=000003&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024438021&sequence=000004&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA |
| volume_link | (DE-604)BV009829063 |
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