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Homocarnosinosis

Known as: HOMOCARNOSINASE DEFICIENCY 
National Institutes of Health

Papers overview

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2018
2018
A family with homocarnosinosis was reported in the literature in 1976. Three affected siblings had spastic paraplegia, retinitis… 
Review
2004
Review
2004
Purpose of reviewThere has been increased recognition of the pediatric neurotransmitter disorders. This review focuses on the… 
Highly Cited
2004
Highly Cited
2004
SummaryGamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced… 
2004
2004
Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF… 
Review
1993
Review
1993
Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the mammalian central nervous system, is produced from… 
1982
1982
Abstract: Homocarnosine (γ‐aminobutyrylhistidine) is a brain‐specific dipeptide. Homocarnosinosis is a familial metabolic… 
1979
1979
Biochemical studies were carried out on a brain biopsy obtained from a 40 y old woman with homocarnosinosis. This patient and 2… 
1977
1977
Increased concentration of CSF homocarnosine has recently been found in a family with spastic paraplegia. CSF homocarnosine was… 
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…