Linked Life Data

6391315

Source:http://linkedlifedata.com/resource/pubmed/id/6391315

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1985-1-3
pubmed:abstractText
Four patients with late infantile form of Pompe's disease, acid maltase deficiency, are presented. In three of them an autosomical recessive genetical transmission was demonstrated. Signs of neuromuscular involvement were present in all of our patients before four years of age. All cases had elevated muscle and liver enzymes. Echocardiographic studies revealed a septal hypertrophy in three patients. Presence of myotonic discharges on EMG examination suggested the diagnosis in three cases. Pathological and biochemical studies of two siblings, one of them aged 14 months, without clinical findings, demonstrated that the enzyme in late infantile form of acid maltase deficiency is missing from birth. Clinical and pathological muscular involvement of case number 4, in front of normal amounts of acid maltase in this muscle, must alert clinicians to perform enzymatic studies in various tissues in order to confirm diagnosis and better understand biochemical basis of the disease.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0302-4342
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
250-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
[Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].
pubmed:publicationType
Journal Article, English Abstract