Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1992-6-11
pubmed:abstractText
The original case of Cb1 C disease with homocystinuria, cystathioninuria, methylmalonic aciduria, and hypomethioninemia was reexamined because of its importance in the discovery of the homocysteine theory of arteriosclerosis. The vascular lesions in the case consist of proliferative fibrous intimal plaques and focal necrosis of the artery wall, which are attributed to effects of excess homocysteine thiolactone on aggregation of low-density lipoproteins (LDL) and on respiration of endothelial cells. Atrophic, metaplastic, and dysplastic changes within the gastric mucosa are attributed to effects of excess homocysteine thiolactone on synthesis of keratin, sulfomucins, and nucleoproteins within affected cells. The case illustrates how investigation of an inborn error of metabolism illuminates pathophysiological disease processes, normal metabolic pathways, and important aspects of cellular function.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0029-6643
pubmed:author
pubmed:issnType
Print
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7-12
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency: a key case revisited.
pubmed:affiliation
Laboratory Service, Veterans Affairs Medical Center, Providence, RI 02908-4799.
pubmed:publicationType
Journal Article, Case Reports