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40
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1093/brain/awh384" target="_blank" rel="noreferrer">http://doi.org/10.1093/brain/awh384</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
Publisher
An entity responsible for making the resource available
Brain
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Child; Humans; Adult; Prognosis; Aged; Middle Aged; Respiration; adolescent; Preschool; 80 and over; Pain/etiology; Q3 Literature Search; Age of Onset; Age Distribution; Artificial/utilization; Fatigue/etiology; Glycogen Storage Disease Type II/complications/diagnosis/rehabilitation; Movement Disorders/etiology; Respiration Disorders/etiology/therapy; Self-Help Devices/utilization
Creator
An entity primarily responsible for making the resource
Hagemans ML; Winkel LP; Van Doorn PA; Hop WJ; Loonen MC; Reuser AJ; Van der Ploeg AT
Description
An account of the resource
Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural course of the disease in the patient population. A detailed questionnaire covering the patients' medical history and current situation was developed and information was gathered from 54 Dutch patients. The mean age of the participants was 48.6 +/- 15.6 years. The first complaints started at a mean age of 28.1 +/- 14.3 years and were mostly related to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood. Twenty-eight percent of the patients waited >5 years for the final diagnosis after the first visit to a physician for disease-related complaints. At the time of questionnaire completion, 48% of the study population used a wheelchair and 37% used artificial ventilation. Movements such as rising from an armchair, taking stairs or getting upright after bending over were difficult or impossible for more than two-thirds of the respondents. The age at onset, the rate of disease progression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indicated being troubled by fatigue and 46% by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease severity in a large group of Dutch patients. We conclude that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis. The follow-up of patients with late-onset Pompe's disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1093/brain/awh384" target="_blank" rel="noreferrer">10.1093/brain/awh384</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2005
80 And Over
Adolescent
Adult
Age Distribution
Age of Onset
Aged
Artificial/utilization
Backlog
Brain
Child
Fatigue/etiology
Glycogen Storage Disease Type II/complications/diagnosis/rehabilitation
Hagemans ML
Hop WJ
Humans
Journal Article
Loonen MC
Middle Aged
Movement Disorders/etiology
Pain/etiology
Preschool
Prognosis
Q3 Scoping Review Results
Respiration
Respiration Disorders/etiology/therapy
Reuser AJ
Self-Help Devices/utilization
Van der Ploeg AT
Van Doorn PA
Winkel LP
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1212/01.WNL.0000165979.46537.56" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.WNL.0000165979.46537.56</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Disease severity in children and adults with Pompe disease related to age and disease duration
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Child; Cross-Sectional Studies; Female; Humans; infant; Male; Adult; Questionnaires; Aged; Middle Aged; Disease Progression; Age Factors; Respiration; Severity of Illness Index; Activities of Daily Living; adolescent; Preschool; 80 and over; infant; Q3 Literature Search; Newborn; Age of Onset; Muscle; Artificial/statistics & numerical data; Glycogen Storage Disease Type II/diagnosis/epidemiology/physiopathology; Respiratory Insufficiency/epidemiology/etiology/therapy; Skeletal/physiopathology; Wheelchairs/statistics & numerical data
Creator
An entity primarily responsible for making the resource
Hagemans ML; Winkel LP; Hop WC; Reuser AJ; Van Doorn PA; Van der Ploeg AT
Description
An account of the resource
Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/01.WNL.0000165979.46537.56" target="_blank" rel="noreferrer">10.1212/01.WNL.0000165979.46537.56</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2005
80 And Over
Activities of Daily Living
Adolescent
Adult
Age Factors
Age of Onset
Aged
Artificial/statistics & numerical data
Backlog
Child
Cross-sectional Studies
Disease Progression
Female
Glycogen Storage Disease Type II/diagnosis/epidemiology/physiopathology
Hagemans ML
Hop WC
Humans
Infant
Journal Article
Male
Middle Aged
Muscle
Neurology
Newborn
Preschool
Q3 Scoping Review Results
Questionnaires
Respiration
Respiratory Insufficiency/epidemiology/etiology/therapy
Reuser AJ
Severity Of Illness Index
Skeletal/physiopathology
Van der Ploeg AT
Van Doorn PA
Wheelchairs/statistics & numerical data
Winkel LP