Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Homocystinuria

"Homocystinuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information
Definition  |  Details  |  More General Concepts  |  Related Concepts  |  More Specific Concepts
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)


publications
Timeline   |   Most Recent
This graph shows the total number of publications written about "Homocystinuria" by people in Harvard Catalyst Profiles by year, and whether "Homocystinuria" was a major or minor topic of these publication.
To see the data from this visualization as text,
Related Networks
People
Explore
_
Similar Concepts
_
Top Journals 
_
© 2024 President and Fellows of Harvard College
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.