Authors: REDONNETVERNHET I CHATELUT M SALVAYRE R LEVADE T

Citation: I. Redonnetvernhet et al., A NOVEL LYSOSOMAL ACID LIPASE GENE MUTATION IN A PATIENT WITH CHOLESTERYL ESTER STORAGE DISEASE, Human mutation, 11(4), 1998, pp. 335-336

Authors: REDONNETVERNHET I CHATELUT M BUSCAIL L MAHURAN DJ SALVAYRE R LEVADE T

Citation: I. Redonnetvernhet et al., A619-]G SUBSTITUTION IN THE HEXB GENE IS NOT A DELETERIOUS MUTATION, BUT A FREQUENT POLYMORPHISM, Human mutation, 1998, pp. 329-330

Authors: REDONNETVERNHET I CHATELUT M BASILE JP SALVAYRE R LEVADE T

Citation: I. Redonnetvernhet et al., CHOLESTERYL ESTER STORAGE DISEASE - RELATIONSHIP BETWEEN MOLECULAR DEFECTS AND IN-SITU ACTIVITY OF LYSOSOMAL ACID LIPASE, Biochemical and molecular medicine, 62(1), 1997, pp. 42-49

Authors: REDONNETVERNHET I MAHURAN DJ SALVAYRE R DUBAS F LEVADE T

Citation: I. Redonnetvernhet et al., SIGNIFICANCE OF 2 POINT MUTATIONS PRESENT IN EACH HEXB ALLELE OF PATIENTS WITH ADULT G(M2) GANGLIOSIDOSIS (SANDHOFF DISEASE) - HOMOZYGOSITYFOR THE ILE(207)-]VAL SUBSTITUTION IS NOT ASSOCIATED WITH A CLINICAL OR BIOCHEMICAL PHENOTYPE, Biochimica et biophysica acta. Molecular basis of disease, 1317(2), 1996, pp. 127-133

Authors: REDONNETVERNHET I VANAMSTEL JKP JANSEN RPM WEVERS RA SALVAYRE R LEVADE T

Citation: I. Redonnetvernhet et al., UNEVEN X INACTIVATION IN A FEMALE MONOZYGOTIC TWIN PAIR WITH FABRY DISEASE AND DISCORDANT EXPRESSION OF A NOVEL MUTATION IN THE ALPHA-GALACTOSIDASE-A GENE, Journal of Medical Genetics, 33(8), 1996, pp. 682-688