Olmer, R.

patient mutation phenotype study mps iiia family sanfilippo attenuated phenotype syndrome problem novel table brother disease netherland analysis attenuated development mps iiib mucopolysaccharidosi change mps iii diagnosis missense genet disorder symptom level p.s 298p mutation course androgen mps iiia patients sister .1080delc delay 15 novel mutations beesley deletion weber endocrinology gonadal journal sequence allele valstar speech sanfilippo syndrome combination department gonadal development fication testosterone chromosomal compound number classi mps iiid death center c .1080delc receptor sanfilippo syndrome type amsterdam mps iiid patients jansen mutation analysis range cousin variant university root classi fication mps iiib patients ability italian intron group hopwood jj chromosomal dsd enzyme metab