Concepedia

Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism

Erin Paul, Marta Guttenberg, Paige Kaplan, David Watkins, David S. Rosenblatt, James R. Treat, Bernard S. Kaplan

Pediatric Nephrology · 2013 · 10 citations · 14 references

DOI

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References

14

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 237 citations · Full text

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Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot et al. · Pediatric Research · 2007 · 233 citations

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Chemical pathology of homocysteine. IV. Excitotoxicity, oxidative stress, endothelial dysfunction, and inflammation.

PubMed · 2009 · 148 citations

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Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

Ajay P. Sharma, Cheryl R. Greenberg, Asuri N. Prasad et al. · Pediatric Nephrology · 2007 · 112 citations

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Human methionine synthase reductase is a molecular chaperone for human methionine synthase

Kazuhiro Yamada, Roy A. Gravel, Tetsuo Toraya et al. · Proceedings of the National Academy of Sciences · 2006 · 112 citations · Full text

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