合計: 2 |
|
PMID (PMCID) | ||
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3736769 |
MALE | Adult |
Homocarnosinosis: influence of dietary restriction of histidine. | ||
Lunde HA, Gjessing LR, Sjaastad O. Neurochem Res. 1986;11(6):825-38. |
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Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF and the brain and, in addition, by carnosinuria and serum carnosinase deficiency. | ||
7375183 |
MALE | Child |
Carnosinase deficiency: a new variant with high residual activity. | ||
Fleisher LD, Rassin DK, Wisniewski K, Salwen HR. Pediatr Res. 1980;14(4 Pt 1):269-71. |
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Carnosinuria due to plasma carnosinase deficiency may be merely associated with the strinking neurologic findings that have been reported rather than causally related. |