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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

  • Published:2011-12-08 Issue:6 Volume:21 Page:1410-1418
  • ISSN:1460-2083
  • Container-title:Human Molecular Genetics
  • language:en
  • Short-container-title:

Author:

Stucki Martin,Coelho David,Suormala Terttu,Burda Patricie,Fowler Brian,Baumgartner Matthias R.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference27 articles.

1. Causes of and diagnostic approach to methylmalonic acidurias;Fowler;J. Inherit. Metab. Dis.,2008

2. Inherited disorders of folate and cobalamin transport and metabolism;Rosenblatt,2001

3. Gene identification for the cblD defect of vitamin B12 metabolism;Coelho;N. Engl. J. Med.,2008

4. Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells;Cooper;Am. J. Hematol.,1990

5. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis;Suormala;J. Biol. Chem.,2004

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1. Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes;International Journal of Molecular Sciences;2024-07-23

2. Cobalt–Sulfur Coordination Chemistry Drives B12 Loading onto Methionine Synthase;Journal of the American Chemical Society;2023-11-02

3. Cobalt-sulfur coordination chemistry drives B12loading onto methionine synthase;2023-07-26

4. Intracellular processing of vitamin B12 by MMACHC (CblC);Vitamins and Hormones;2022

5. Disorders of Cobalamin Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
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