「ACIDURIA」の共起表現一覧(1語右で並び替え)
該当件数 : 19件
| Urocanic | aciduria, also called urocanate hydratase deficiency o |
| i syndrome, Hartnup disease, argininosuccinic | aciduria and homocystinuria. |
| If UMP synthase is defective, orotic | aciduria can result. |
| Urocanic | aciduria has an autosomal recessive pattern of inherit |
| Urocanic | aciduria has an autosomal recessive inheritance patter |
| Both forms of 2-Hydroxyglutaric | aciduria have an autosomal recessive pattern of inheri |
| In urocanic | aciduria, increased urocanic acid in the urine indicat |
| Urocanic | aciduria is thought to be relatively benign. |
| nic acidemia (MMA), also called methylmalonic | aciduria, is an autosomal recessive metabolic disorder |
| nate kinase deficiency, also called mevalonic | aciduria, is an autosomal recessive metabolic disorder |
| Complications from argininosuccinic | aciduria may include developmental delay and mental re |
| An infant with argininosuccinic | aciduria may seem lethargic or be unwilling to eat, ha |
| Argininosuccinic | aciduria occurs in approximately 1 in 70,000 live birt |
| n the developmental delay in argininosuccinic | aciduria patients. |
| istidine present in the liver during urocanic | aciduria, the only true metabolic indicator of the dis |
| The incidence of 3-methylglutaconic | aciduria type IV is unknown. |
| The incidence of 3-methylglutaconic | aciduria type II is approximately 1 in 200,000 male in |
| drome is a common name for 3-methylglutaconic | aciduria type II. |
| The signs and symptoms of 3-methylglutaconic | aciduria type IV are variable and overlap with types I |
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