Carnosinase deficiency | definition of carnosinase deficiency by Medical dictionary
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carnosinase deficiency
carnosinase deficiency
An autosomal recessive condition characterised by severe psychomotor retardation, myotonic and grand mal seizures.
Management
Low-protein diet.
carnosinase deficiency
Carnosinemia An AR condition characterized by severe psychomotor retardation, myotonic and grand mal seizures Treatment Low-protein diet
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carnosinase
carnosinemia
carnosinuria
deficiency
serum carnosinase deficiency
References in periodicals archive
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A deletion in the long arm of chromosome 18 in a child with serum
carnosinase deficiency
.
Serum carnosinase activity in plasma and serum: validation of a method and values in cardiopulmonary bypass surgery
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