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Results 1 - 4 of 4 for "Homocystinuria," cblD "type," variant 1
  1. ... to methylene tetrahydrofolate reductase deficiency Genetic Testing Registry: Homocystinuria, cblD type, variant 1 Homocystinuria National Organization for Rare Disorders (NORD) ClinicalTrials. ...
  2. The MMADHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin ( ...
  3. ... reported in the medical literature. ... types of the disorder: cblC, cblD, cblF, and cblJ, respectively. Another type, called epi- ...
  4. ... Rare Disorders (NORD) ClinicalTrials.gov METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE ...