Homocarnosinosis

Known as: HOMOCARNOSINASE DEFICIENCY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2018
01219742018

Papers overview

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2018
2018
OBJECTIVES A family with homocarnosinosis was reported in the literature in 1976. Three affected siblings had spastic paraplegia… (More)
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2006
2006
We describe a rapid and sensitive method for the quantification of homocarnosine in physiological fluids, with particular… (More)
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Review
2004
Review
2004
PURPOSE OF REVIEW There has been increased recognition of the pediatric neurotransmitter disorders. This review focuses on the… (More)
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1992
1992
A specific polyclonal antiserum to human serum carnosinase was raised in rabbits and was used to prepare an agarose-protein A… (More)
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1986
1986
Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF… (More)
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1983
1983
Patients afflicted with homocarnosinosis have elevated concentrations of homocarnosine in brain and CSF. It has been reported… (More)
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1982
1982
 
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1977
1977
Increased concentration of CSF homocarnosine has recently been found in a family with spastic paraplegia. CSF homocarnosine was… (More)
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1976
1976
Homocarnosine, the brain-specific dipeptide of gamma-aminobutyric acid (GABA) and histidine, was found to be elevated in the CSF… (More)
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