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Children with Pompe Disease: Clinical characteristics and effects of enzyme replacement therapy = Kinderen met de ziekte van Pompe: klinische karakteristieken, bijzondere kenmerken en effecten van enzymtherapie Preview this item
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Children with Pompe Disease: Clinical characteristics and effects of enzyme replacement therapy = Kinderen met de ziekte van Pompe: klinische karakteristieken, bijzondere kenmerken en effecten van enzymtherapie

Author: C I van Capelle
Publisher: Rotterdam : Erasmus University Rotterdam, 2014
Dissertation: Thesis Erasmus University Rotterdam to obtain the degree of Doctor in the year 2014.
Edition/Format:   Thesis/dissertation : Document : Thesis/dissertation : eBook   Computer File : English
Summary:
Pompe disease is a metabolic myopathy. Since the first description of the disease in 1932 by J.C. Pompe,1 tremendous progress has been made from discovering the biochemical and genetic basis of the disease to developing enzyme replacement therapy (ERT). With this therapy, the management of Pompe disease has moved from supportive care alone, to a disease-specific intervention aimed at correcting the underlying  Read more...
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Additional Physical Format: Children with Pompe Disease: Clinical characteristics and effects of enzyme replacement therapy
(NL-LeOCL)376054433
Material Type: Document, Thesis/dissertation, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: C I van Capelle
ISBN: 9789462592100 9462592101
OCLC Number: 881852906
Notes: Also published in print version.
Description: 1 online resource (300 pages) : illustrations
Other Titles: Kinderen met de ziekte van Pompe: klinische karakteristieken, bijzondere kenmerken en effecten van enzymtherapie
Responsibility: Carine Ivette van Capelle.

Abstract:

Pompe disease is a metabolic myopathy. Since the first description of the disease in 1932 by J.C. Pompe,1 tremendous progress has been made from discovering the biochemical and genetic basis of the disease to developing enzyme replacement therapy (ERT). With this therapy, the management of Pompe disease has moved from supportive care alone, to a disease-specific intervention aimed at correcting the underlying enzymatic defect. While in the past research mainly concentrated on elucidating the biochemical pathways and pathophysiology of Pompe disease, nowadays focus has shifted towards documenting the natural history of the disease and studying the effect of the new treatment. A structured follow-up of a large number of patients is difficult in a rare disorder like Pompe disease. The establishment of an expert center for Pompe disease at the Erasmus MC University Medical Center has helped us to systematically study all Pompe patients living in the Netherlands. At present, we follow 149 patients, of which 18 patients are diagnosed with classic-infantile Pompe disease; and 20 children and 111 adults with less progressive forms of the disease. The studies in this thesis have focused on children with Pompe disease. Our aim was to delineate the first presentation and clinical characteristics of the disease and to study the long-term effects of enzyme replacement therapy with recombinant human alpha-glucosidase.

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