Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Homocarnosinosis

Known as: HOMOCARNOSINASE DEFICIENCY 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
SummaryGamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced… Expand
2004
2004
Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF… Expand
  • table I
  • figure 4
  • figure 5
  • figure 6
  • figure 7
Review
1993
Review
1993
Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced from… Expand
  • figure 1
  • table 1
  • figure 2
1985
1985
 
1983
1983
Patients afflicted with homocarnosinosis have elevated concentrations of homocarnosine in brain and CSF. It has been reported… Expand
1982
1982
Abstract: Homocarnosine (γ‐aminobutyrylhistidine) is a brain‐specific dipeptide. Homocarnosinosis is a familial metabolic… Expand
1979
1979
Biochemical studies were carried out on a brain biopsy obtained from a 40 y old woman with homocarnosinosis. This patient and 2… Expand
1977
1977
Increased concentration of CSF homocarnosine has recently been found in a family with spastic paraplegia. CSF homocarnosine was… Expand
Highly Cited
1976
Highly Cited
1976
Homocarnosine, the brain‐specific dipeptide of γ‐aminobutyric acid (GABA) and histidine, was found to be elevated in the CSF, i.e… Expand