Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1978-12-20
pubmed:abstractText
The case of a three-year-old boy with mental retardation, moderate muscular hypotony and speech delay is presented. The mild form of maple syrup urine disease was suspected at the first blood screening test by means of ion-exchange thin-layer chromatography. The diagnosis was confirmed by quantitative serum amino acid analysis and protein loading. On a low protein (2 g/kg body weight) diet completed with leucine-isoleucine-valine free formula prompt and lasting normalization of the serum amino acid level ensued with steady improvement of the clinical and neurological status.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0001-6527
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
137-43
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Mild variant of maple syrup urine disease.
pubmed:publicationType
Journal Article, Case Reports