Morphological and Biochemical Findings in a Case of Mucopolysaccharidosis Type III A (Sanfilippo's Disease Type A)
Tài liệu tham khảo
Aleu, 1965, Electron microscopy of two cerebal biopsis in gargoylism, J. Neuropath. exp. Neurol., 24, 304, 10.1097/00005072-196504000-00010
Bechtelsheimer, 1967, Die Heparitinsulfat-Mucopolysaccharidose (Sanfilippo), Verh. Dtsch. Ges. Path., 51, 410
Blümcke, 1971, Vergleichende feinstrukturelle Untersuchungen an Lebern bei Mucopolysaccharidosen und Mucolipidosen, Verh. Dtsch. Ges. Path., 55, 394
Cantz, 1972, Corrective factors for inborn errors of mucopolysacharide metabolism, Vol. 28, 884
Dekaban, 1971, Hurler's and Sanfilippo's variants of mucopolysaccharidosis, Arch. Path., 91, 434
Escourolle, 1966, Biopsie cérébrale d'un cas de mucopolysaccharidose HS (oligophrénie polydystrophique ou maldie de Sanfilippo), Etude histochimique et ultrastructurale. Presse mcd., 74, 2869
Figura, 1974, Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-α-D-glucosaminidase in Sanfilippo B fibroblasts, J. Clin. Invest., 53, 85, 10.1172/JCI107563
Figura, 1972, The Sanfilippo B corrective factor, A N-acetyl-α-D-glucosaminidase. Biochem. Biophys. Res. Comm., 48, 262, 10.1016/S0006-291X(72)80044-5
Freitag, 1970, Die Bildung von Speicherelementen in Leberzellen bei Lipomucopolysaccharidosen, Verh. Dtsch. Ges. Path., 54, 545
Harris, 1961, Mucopolysaccharide disorder: a possible new genotype of Hurler's syndrome, Amer. J. Dis. Child., 102, 741
Haust, 1968, Mitochondrial budding and morphogenesis of children with the Hurler and Sanfilippo diseases (mucopolysaccharidoses Types I and III), Exp. molec. Path., 9, 242, 10.1016/0014-4800(68)90039-7
Jensen, 1971, Mucopolysaccharidosis Type III (Sanfilippo's syndrome), Acta path, microbiol. scand. A, 79, 257
Kint, 1973, Mucopolysaccharidosis: Secondarily induced abnormal distribution of lysosomal isoenzymes, Science, 181, 352, 10.1126/science.181.4097.352
Kresse, 1973, Mucopolysaccharidosis III A Sanfilippo A disease: Deficiency of a heprain sulfamidase in skin fibroblasts and leukocytes, Biochem. Biophys. Res. Comm., 54, 1111, 10.1016/0006-291X(73)90807-3
Kresse, 1970, Stoffwechselheterogenität 14C- und 35S-markierter Glykosaminoglykane (saure mucopolysaccharide) bei in vitro-Inkubation, Hoppe-Seyler's Z. Physiol. Chem., 351, 151, 10.1515/bchm2.1970.351.1.151
Kresse, 1972, The Sanfilippo A corrective factor, Purification and mode of action. J. Biol. Chem., 247, 2164
Matalon, 1973, (Abstract), Ped. Res., 7, 384
McKusick, 1972, The Mucopolysaccharidoses, 521
Mowry, 1958, Observations on the use of sulfuric acid in ether for the sulfation of hydroxyl groups in tissue sections, J. Histochem. Cytochem., 6, 82
O'Brien, 1972, Sanfilippo's syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type B patients, Proc. nat. Acad. Sci. (Wash.), 69, 1720, 10.1073/pnas.69.7.1720
Passarge, 1974, Krankheiten infolge genetischer Defekte im lysosomalen Mucopolysaccharidabbau, Dtsch. med. Wschr., 99, 144, 10.1055/s-0028-1107727
Rampini, 1969, Das Sanfilippo-Syndrom (polydystrophe Oligophrenie, HS-Mukopolysaccharidose), Helvetica Paediatrica, 24, 55
Reissig, 1955, A modified colorimetric method for the estimation of N-acetylamino sugars, J. Biol. Chem., 217, 959, 10.1016/S0021-9258(18)65959-9
Sanfilippo, 1963, Mental reterdation associated with acid mucopolysaccharid mucopolysacchariduria (heparitin sulfate type), J, Pediat., 63, 837, 10.1016/S0022-3476(63)80279-6
Saito, 1968, Enzymatic methods for the determination of small quantities of isomeric chondroitin sulfates, J. Biol. Chem., 243, 1536, 10.1016/S0021-9258(18)93575-1
Silberberg, 1972, Ultrastructure of cartilage in the Hurler and Sanfilippo syndromes, Arch. Path., 94, 500
Spranger, 1972, The systemic mucopolysaccharidoses, Erg. Inn. Med. Kinderhlk., 32 NF, 165, 10.1007/978-3-642-65300-1_4
Teller, 1967, Die Heparitin-Sulfat-Mukolysaccharidose (Sanfilippo), Klin. Wschr., 45, 497, 10.1007/BF01716364
Wallace, 1966, Mucopolysaccharidosis Type III, Arch. Path., 82, 462
Werries, 1972, Bestimmung des Glykosidaseaktivitätsverteilungsmusters in Biopsiematerial menschlicher Organe und in Hautfibroblasten, 73
