… in isolated functional methionine synthase deficiency fall into … cblG patient has greatly reduced
levels of methionine synthase … levels of methionine synthase activity in the first patient may …

… catalyzes the remethylation of homocysteine to methionine in a methylcobalamin-… methionine
synthase sequences of several lower organisms to clone a human methionine synthase …

… [ 57 Co]CN cobalamin to incorporate into MS in patient fibroblasts. We report the mutations
responsible for three cblG-variant patients, two of them siblings, who presented with neonatal …

… the MeCbl-dependent enzyme methionine synthase. Methionine synthase specific activity in
… ditions; synthase specific activity in extracts of 5 cblG patients was low but was high in a 6th …

… mutations in human methionine synthase. The exon structure of the methionine synthase
gene and the locations of the mutations … Mutations identified for the first time in the present …

… five patients diagnosed with methionine synthase deficiency (cblG) who all have shown
significant clinical benefit and a favorable prognosis following initiation of therapy. One patient …

… for remethylation of homocysteine to methionine. Citation2,… due to mutations in the gene
that encodes for methionine synthase reductase enzyme (MTRR). To date, 19 different mutations …

… transition of the B12-dependent methionine synthase (MTR) gene and the A66G
mutation of the methionine synthase reductase (MTRR) gene. Results — Patients with CAD (n∞∞=∞∞…

… mutations in methionine synthase reductase. (A) Overall reaction of methionine synthase and
methionine synthase … THF) to homocysteine using methionine synthase-methylcobalamin […

… , methionine synthase and methionine synthase reductase, have also been identified.
Methionine synthase … of homocysteine to form methionine and methionine synthase reductase is …