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1 t manifest in both severe homocystinuria and methylmalonic aciduria.
2 mulation of inactive enzyme and resulting in methylmalonic aciduria.
3 dysfunction in human patients suffering from methylmalonic aciduria.
4 uman ACA have been identified in humans with methylmalonic aciduria.
5 s residues responsible for the human disease methylmalonic aciduria.
6 t defects in its encoding gene underlie cblB methylmalonic aciduria.
7 known function, MMAA, has been implicated in methylmalonic aciduria.
8 ase (EC 5.4.99.2) result in the mut forms of methylmalonic aciduria.
9 Failure to assemble holo-MCM leads to methylmalonic aciduria.
10 n humans, deficiencies in the mutase lead to methylmalonic aciduria, a rare disease that is fatal in
11 in the human homolog of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism th
12 n the human homologue of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism.
13 ions in the human ortholog of MeaB result in methylmalonic aciduria, an inborn error of metabolism.
14 compound heterozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC
15 ficient for its interaction with MMADHC (the methylmalonic aciduria and homocystinuria type C protein
18 mutation, D180X, described in a patient with methylmalonic aciduria, and characterized the associated
19 7 days of age with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma homocysteine
20 cts in the human homologue of MeaB result in methylmalonic aciduria, but the role of this protein in
21 east two biologically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate k
23 he missense mutations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, i
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