K. Michael Gibson
Division of Medical Genetics
Department of Pediatrics
Children's Hospital of Pittsburgh
University of Pittsburgh School of Medicine
USA
Name/email consistency: high
- Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Wolfe, L.A., Finegold, D.N., Vockley, J., Walters, N., Chambaz, C., Suormala, T., Koch, H.G., Matern, D., Barshop, B.A., Cropcho, L.J., Baumgartner, M.R., Gibson, K.M. Pediatrics (2007)
- Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. Gibson, K.M., Jakobs, C., Pearl, P.L., Snead, O.C. IUBMB. Life (2005)