HIGHLIGHTS
- who: Victoria Fettelschoss from the ‡Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland have published the paper: Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1, in the Journal: (JOURNAL)
- what: The authors report a new (fifth) patient with the cblJ disorder who presented at 7 days of age with poor feeding hypotonia methylmalonic aciduria and elevated plasma homocysteine and harbored the mutations c.1667_ 1668delAG and c.1295G>A in the gene. Using a live cell fluorescent resonance . . .
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