Morphological and Biochemical Findings in a Case of Mucopolysaccharidosis Type III A (Sanfilippo's Disease Type A)

Beiträge zur Pathologie - Tập 154 - Trang 324-338 - 1975
Chr. Witting1,2,3, K.M. Müller1,2,3, H. Kresse1,2,3, K. v. Figura1,2,3, H. Marx1,2,3
1Pathologisches Institut der Universität Münster/Westf. (Direktor: Prof. Dr. E. Grundmann)
2Physiologisch-Chemisches Institut der Universität Münster/W. (Direktor: Prof. Dr. E. Buddecke)
3Kinderheilstätte Nordkirchen/Westf. (Chefarzt: Dr. med. H. Marx)

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