(1) Histochemical and electron-microscopic observations on a 30-month-old child with Hurler syndrome showed marked irregularities in chondrocyte orientation within the growth plate, along with disruption of the normal columnar architecture.
(2) Hurler syndrome, a lethal inborn error of lysosomal metabolism, results from the systemic accumulation of glycosaminoglycan.
(3) 4-Trifluoromethylumbelliferyl glycosides were applied for revealing the corresponding enzyme deficiencies upon diagnosis of Gaucher and Hurler diseases as well as GM1 gangliosidosis and alpha-mannosidosis.
(4) The distribution of complex carbohydrates has been investigated at the light and electron microscope levels in sweat glands of normal subjects and patients with Hurler's or Hunter's disease.
(5) Hurler fibroblasts corrected an abnormally high 35SO4-incorporation into acid mucopolysaccharides (MPS) in cultured fibroblasts, whereas Maroteaux-Lamy fibroblasts did not.
(6) Clear cells ("Hurler" cells) were identified within the myocardium and endocardium of both infants.
(7) DI-reactive acid material covered the luminal surface of the sweat gland, coated collagen bundles in the stroma and spared the periglandular collagenous sheath in skin from Hurler and Hunter patients as in that from normal controls.
(8) These biochemical findings clearly demonstrate enzyme differences for these two clinically distinct phenotypes and provide biochemical evidence that the Hurler and Scheie syndromes result from different allelic mutations.
(9) Even more so if "rookie" Hyun-jin Ryu doesn't get his act together tonight - the first Korean pitcher to start in the playoffs looked nothing like the impressive hurler he was in the regular season, getting hit hard by the Braves in the NLDS.
(10) Two brothers with Hurler-Scheie syndrome are presented and the oral and systemic complications each patient had described.
(11) as Rivers is as good a a hurler as they come.. You know, this game could have been different.
(12) The authors have seen eight cases of communicating hydrocephalus in children with genetic metabolic disorders, namely, one mucopolysaccharidosis I (MPS I or Hurler syndrome), one MPS II (Hunter's disease), four MPS III (Sanfilippo syndrome) two of which were siblings, and two achondroplasias.
(13) The pitching performances of their no-name hurlers are a major reason why.
(14) The clinical and roentgenographic features of these cases represent an intermediate phenotype between Hurler's syndrome and Scheie's syndrome, and both parents in each family are first cousins.
(15) Excellent discrimination between normal and affected pregnancies was provided by an estimation of the dermatan sulphate:chondroitin sulphate ratio (Hurler disease) and the heparan sulphate: chondroitin sulphate ratio (Sanfilippo disease); the use of external glycosaminoglycan standards was then unnecessary.
(16) The therapeutic effectiveness of leucocyte transfusion (LT) was compared with that of plasma infusion (PI) clinically by range of motion (ROM) of joints and biochemically from the standpoint of alpha-L-iduronidase activity and urinary excretion of acid mucopolysaccharides (AMPS) in 2 patients with Hurler's and Scheie's syndromes.
(17) 4-Trifluoromethylumbelliferyl-alpha-L-iduronide proved to be also a specific substrate of alpha-L-iduronidase and enabled to detect the enzyme deficiency in patients with Hurler disease as well as a decrease of the enzymatic activity in heterozygous carriers of the disease.
(18) In the present study, the biosynthesis, processing and secretion of alpha-L-fucosidase in I-cell and pseudo-Hurler lymphoid cells was used as a model system to study the existence of such mechanisms.
(19) Thus, they represented the Hurler syndrome clinically, while they had the enzyme defect of the Maroteaux-Lamy syndrome, and they may represent a new severe form of the Maroteaux-Lamy syndrome.
(20) Though these children had the characteristic morphological features of the Hurler syndrome, enzyme assay of cultured fibroblasts showed normal levels of alpha-L-iduronidase and decreased activity of arylsulphatase B.