Audiological abnormalities in the Klippel-Feil syndrome.
ABSTRACT Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline. Radiologically, there is a failure of cervical segmentation. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. The audiological assessment of 44 patients with KFS is reported. Thirty five were found to have abnormalities on audiological testing. The presence of other features in these patients, reviews of data from other reports, and the need for further study are discussed.
Article: Chemical synthesis and kinetic characterization of UDP-2-deoxy-D-lyxo-hexose("UDP-2-deoxy-D-galactose"), a donor-substrate for beta-(1-->4)-D-galactosyltransferase.[show abstract] [hide abstract]
ABSTRACT: Bovine beta-(1-->4)-galactosyltransferase (GalT) transfers galactose from UDP-galactose to beta-D-GlcpNAc-terminating oligosaccharides to produce N-acetyllactosamine sequences. We report here the chemical synthesis, structural characterization and enzymatic evaluation of the very labile UDP-2-deoxy-D-lyxo-hexose ("UDP-2-deoxy-galactose," 2) as an alternate donor for GalT. Donor 2 had kinetic parameters, including a Km value of 51 microM, almost identical to those for the natural substrate UDP-galactose when beta-D-GlcpNAc-O(CH2)8COOMe was used as the acceptor. The product of the enzymatic transfer was isolated and confirmed to have the expected 2'-deoxy-N-acetyllactosamine sequence.Carbohydrate Research 08/1993; 245(1):137-44. · 2.33 Impact Factor
La Presse médicale 03/1968; 76(10):485-7. · 0.42 Impact Factor