K J Lei

Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.

L L Shelly, K J Lei, C J Pan et al. · Journal of Biological Chemistry · 1993 · 146 citations · Full text

Genetics, Glycobiology, Glucose Homeostasis +20

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

K J Lei, C J Pan, L L Shelly et al. · Journal of Clinical Investigation · 1994 · 127 citations · Full text

Genetics, Molecular Biology, Pathology +19

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

K J Lei, Y T Chen, H Chen et al. · PubMed · 1995 · 119 citations

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

K J Lei, L L Shelly, Baochuan Lin et al. · Journal of Clinical Investigation · 1995 · 111 citations · Full text

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

Tsuneyuki Ubagai, K J Lei, S Huang et al. · Journal of Clinical Investigation · 1995 · 67 citations · Full text

Methionine Adenosyltransferase, Genetics, Molecular Biology +16