Authors:
Chakrapani, A
Olpin, S
Cleary, M
Walter, JH
Wraith, JE
Besley, GTN
Citation: A. Chakrapani et al., Trifunctional protein deficiency: Three families with significant maternalhepatic dysfunction in pregnancy not associated with E474Q mutation, J INH MET D, 23(8), 2000, pp. 826-834
Authors:
Sargent, CA
Kidd, A
Moore, S
Dean, J
Besley, GTN
Affara, NA
Citation: Ca. Sargent et al., Five cases of isolated glycerol kinase deficiency, including two families:failure to find genotype : phenotype correlation, J MED GENET, 37(6), 2000, pp. 434-441
Authors:
Lohse, P
Maas, S
Lohse, P
Elleder, M
Kirk, JM
Besley, GTN
Seidel, D
Citation: P. Lohse et al., Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease, J LIPID RES, 41(1), 2000, pp. 23-31