L. J. Elsas

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

S. Pinnell, M. Marshall, H. Yeowell, 1994, Journal of Clinical Investigation.

Neural‐tube defects are associated with low concentrations of cobalamin (vitamin B12) in amniotic fluid

A. Boddie, M. T. Steen, K. Sullivan, 1998, Prenatal diagnosis.

Molecular basis for Duarte and Los Angeles variant galactosemia.

S. Langley, P. Dembure, K. Lai, 1997, American journal of human genetics.

Overexpression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast.

K Lai, K. Lai, L J Elsas, 2000, Biochemical and biophysical research communications.

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

J. Elsas, J. Fridovich-Keil, S. Langley, 1995, American journal of human genetics.

Campomelic syndrome and deletion of SOX9.

K. May, L. S. Kean, D. Graham, 1999, American journal of medical genetics.

Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response.

R. Miller, S. Pinnell, L. Elsas, 1978, The Journal of pediatrics.

Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts.

R. Miller, R. Priest, L. Elsas, 1979, The Journal of investigative dermatology.