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kw.\*:("Mucopolisacaridosis San Filippo")

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Sanfilippo disease in GreeceBERATIS, N. G; SKLOWER, S. L; WILBUR, L et al.Clinical genetics. 1986, Vol 29, Num 2, pp 129-132, issn 0009-9163Article

Mild San filippo syndrome: a further cause of hyperactivity and behavioural disturbanceWRAITH, J. E; DANKS, D. M; ROGERS, J. G et al.Medical journal of Australia. 1987, Vol 147, Num 9, pp 450-451, issn 0025-729XArticle

Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type BTAMAGAWA, K; MORIMATSU, Y; FUJISAWA, K et al.Brain & development (Tokyo. 1979). 1985, Vol 7, Num 6, pp 599-609, issn 0387-7604Article

Sanfilippo disease, type C: three cases in the same familyTURKI, I; KRESSE, H; SCOTTO, J et al.Neuropediatrics. 1989, Vol 20, Num 2, pp 90-92, issn 0174-304X, 3 p.Article

Sanfilippo syndrome, type D: A spectrophotometric assay with prenatal diagnostic potentialNOWAKOWSKI, R. W; THOMPSON, J. N; TAYLOR, K. B et al.Pediatric research. 1989, Vol 26, Num 5, pp 462-466, issn 0031-3998, 5 p.Article

Carrier detection in San Filippo A syndromeTOONE, J. R; APPLEGARTH, D. A.Clinical genetics. 1988, Vol 33, Num 6, pp 401-403, issn 0009-9163Article

Sanfilippo B disease : a re-examination of a particular sibship after 12 yearsDI NATALE, P.Journal of inherited metabolic disease. 1991, Vol 14, Num 1, pp 23-28, issn 0141-8955, 6 p.Article

Follow-up on seven adult patients with mild Sanfilippo B-diseaseVAN SCHROJENSTEIN-DE VALK, H. M. J; VAN DE KAMP, J. J. P.American journal of medical genetics. 1987, Vol 28, Num 1, pp 125-129, issn 0148-7299Article

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeSCOTT, H. S; BLANCH, L; XIAO-HUI GUO et al.Nature genetics. 1995, Vol 11, Num 4, pp 465-467, issn 1061-4036Article

Management of mucopolysaccharidosis type IIICLEARY, M. A; WRAITH, J. E.Archives of disease in childhood. 1993, Vol 69, Num 3, pp 403-406, issn 0003-9888Article

Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrateFREEMAN, C; HOPWOOD, J. J.Analytical biochemistry. 1989, Vol 176, Num 2, pp 244-248, issn 0003-2697Article

Autofluorescence emission spectra of neuronal lipopigment in mucopolysaccharidoisis (sanfilippo's syndrome)DOWSON, J. H; WILTON-COX, H; OLDFORS, A et al.Acta neuropathologica. 1989, Vol 77, Num 4, pp 426-429, issn 0001-6322Article

Identification of a common mutation (R245H) in Sanfilippo A patients from the NetherlandsWEBER, B; VAN DE KAMP, J. J. P; KLEIJER, W. J et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 416-422, issn 0141-8955Article

Sanfilippo syndrome type A in two adult sibsLINDOR, N. M; HOFFMAN, A; O'BRIEN, J. F et al.American journal of medical genetics. 1994, Vol 53, Num 3, pp 241-244, issn 0148-7299Article

A patient with Sanfilippo syndrome and pseudocholinesterase deficiency, further complicated by post-tonsillectomy haemorrhageMYLES, P. S; WESTHORPE, R. N.Anaesthesia and intensive care. 1989, Vol 17, Num 1, pp 86-88, issn 0310-057XArticle

Hepatic fibrosis in the mucopolysaccharidosesPARFREY, N. A; HUTCHINS, G. M.The American journal of medicine. 1986, Vol 81, Num 5, pp 825-829, issn 0002-9343Article

First trimester prenatal diagnosis of Sanfilippo disease (MPSII) type BMINELLI, A; DANESINO, C; LO CURTO, F et al.Prenatal diagnosis. 1988, Vol 8, Num 1, pp 47-52, issn 0197-3851Article

Diagnosis of mucopolysaccharidosis type IIIBCHUANG, S.-C; HWU, W.-L; WU, C.-C et al.Xiaoér keyi xuéhuì zázhì. 1996, Vol 37, Num 5, pp 320-323, issn 0001-6578Article

Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndromeWUH-LIANG HWU; TSO-REN WANG.Xiaoér keyi xuéhuì zázhì. 1991, Vol 32, Num 5, pp 280-285, issn 0001-6578Article

Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigreeSEWELL, A. C; PONTZ, B. F; BENISCHEK, G et al.Clinical genetics. 1988, Vol 34, Num 2, pp 116-121, issn 0009-9163Article

Carrier detection for Sanfilippo A syndromeMATALON, R; DEANCHING, M; MARBACK, R et al.Journal of inherited metabolic disease. 1988, Vol 11, Num 2, pp 158-160, issn 0141-8955Article

First-trimester prenatal diagnosis of Sanfilippo C diseaseDI NATALE, P; PANNONE, N; D'ARGENIO, G et al.Prenatal diagnosis. 1987, Vol 7, Num 8, pp 603-605, issn 0197-3851Article

Prenatal diagnosis of Sanfilippo syndrome type a by early amniocentesisTHOMPSON, J. N; HUFFMAN, P; MCCONKIE-ROSELL, A et al.Biochemistry and molecular biology international. 1993, Vol 29, Num 5, pp 793-797, issn 1039-9712Article

Sanfilippo syndromeSANTHI DEVI, K; VEERRAJU, P; SRIDHARA RAMA RAO, B. S et al.Indian journal of pediatrics. 1993, Vol 60, Num 4, pp 595-597, issn 0019-5456Article

Carrier detection for Sanfilippo A syndromeSTONE, J; BRIMBLE, A; PENNOCK, C. A et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 2, pp 184-186, issn 0141-8955, 3 p.Article

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