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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 cript level, explaining combined malonic and methylmalonic aciduria.
10        Failure to assemble holo-MCM leads to methylmalonic aciduria.
11 n humans, deficiencies in the mutase lead to methylmalonic aciduria, a rare disease that is fatal in
12  in the human homolog of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism th
13 n the human homologue of MeaB, MMAA, lead to methylmalonic aciduria, an inborn error of metabolism.
14 ions in the human ortholog of MeaB result in methylmalonic aciduria, an inborn error of metabolism.
15  compound heterozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC
16 ficient for its interaction with MMADHC (the methylmalonic aciduria and homocystinuria type C protein
17                                  MMADHC (the methylmalonic aciduria and homocystinuria type D protein
18           Mutations in the cblC gene lead to methylmalonic aciduria and homocystinuria.
19 min trafficking, and mutations in CblD cause methylmalonic aciduria and/or homocystinuria.
20 mutation, D180X, described in a patient with methylmalonic aciduria, and characterized the associated
21  7 days of age with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma homocysteine
22 n regions and described combined malonic and methylmalonic aciduria as a biochemical manifestation.
23 cts in the human homologue of MeaB result in methylmalonic aciduria, but the role of this protein in
24 plains the biochemical penalties incurred by methylmalonic aciduria-causing mutations that reside at
25 east two biologically compelling candidates, methylmalonic aciduria cblB type (MMAB) and mevalonate k
26 fy the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA).
27 he missense mutations in MMAA that result in methylmalonic aciduria have been mapped onto MeaB and, i
28             Many of the mutations that cause methylmalonic aciduria in humans affect residues in the
29  region of MMAA lead to the genetic disorder methylmalonic aciduria in which the body is unable to pr
30                                              Methylmalonic aciduria (MMAuria), caused by deficiency o
31  acidemia type 1, maple syrup urine disease, methylmalonic aciduria, ornithine transcarbamylase defic
32 G-protein metallochaperone MeaB in bacteria [methylmalonic aciduria type A (MMAA) in humans] is respo
33                     Mutations in ATR lead to methylmalonic aciduria type B, an inborn error of B(12)
34 cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC
35  was allocated to a pediatric patient having methylmalonic aciduria, whereas the right graft was allo