Linked Life Data

19047572

Source:http://linkedlifedata.com/resource/pubmed/id/19047572

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
23 Suppl 2
pubmed:dateCreated
2008-12-2
pubmed:abstractText
The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscular disorder that manifests as a continuum of clinical phenotypes, which vary with respect to organ involvement, age at onset, and severity. Early diagnosis requires both increased awareness among physicians regarding the clinical characteristics of the disease and fast and reliable acid alpha-glucosidase (GAA) enzyme activity assays to confirm the GAA deficiency. The clinical diagnosis of glycogenosis type II is confirmed by virtual absence (found in infants) and marked reduced activity (found in juveniles and adults) of GAA enzyme in blood samples, cultured fibroblasts, and muscle biopsies. This article specifically highlights the need for early recognition of the clinical manifestation of the disease in infants, juveniles, and adults. Descriptions of the main clinical features of the condition, as well as differential diagnosis are included. In addition, the tests required for a confirmed diagnosis are described, and use of muscle imaging to evaluate muscle pathology is reviewed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
2
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S4-11
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Diagnosis of glycogenosis type II.
pubmed:affiliation
Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia of Udine, Udine, Italy.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't