Concepedia

Management of a patient with holocarboxylase synthetase deficiency

Johan L.K. Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A. Thomas, Le Phuc Thuy, Bruce A. Barshop, Michael Woontner, Donald M. Mock, Pei-Wen Chiang, Elaine Spector,

Molecular Genetics and Metabolism · 2008 · 45 citations · 23 references

DOIFull text

Open access

Concepts

References

23

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

, , +12

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

B Burri, Lawrence Sweetman, William L. Nyhan · Journal of Clinical Investigation · 1981 · 148 citations · Full text

, , +16

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

Yoichi Suzuki, Yoko Aoki, Yoshinori Ishida et al. · Nature Genetics · 1994 · 131 citations

, , +8

Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells

R. Sergio Solórzano-Vargas, Diana Pacheco‐Alvarez, Alfonso León‐Del‐Río · Proceedings of the National Academy of Sciences · 2002 · 109 citations

, , +16

Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli.

Alfonso León‐Del‐Río, R A Gravel · Journal of Biological Chemistry · 1994 · 99 citations · Full text

, , +12