Sanfilippo type C diagnosis: assay of acetyl-CoA: α-glucosaminide N-acetyltransferase using [¹⁴C]glucosamine as substrate and leukocytes as enzyme sourcePALLINI, R; LEDER, I. G; DI NATALE, P et al.Pediatric research. 1984, Vol 18, Num 6, pp 543-545, issn 0031-3998Article

Sanfilippo type C syndrome in two sistersUVEBRANT, P.Acta paediatrica scandinavica. 1985, Vol 74, Num 1, pp 137-139, issn 0001-656XArticle

Biosynthesis and maturation of α-N-acetylglucosaminidase in normal and sanfilippo B-fibroblastsVON FIGURA, K; HASILIK, A; STECKEL, F et al.American journal of human genetics. 1984, Vol 36, Num 1, pp 93-100, issn 0002-9297Article

RADIOLABELLED OLIGOSACCHARIDES AS SUBSTRATES FOR THE ESTIMATION OF SULFAMIDASE AND THE DETECTION OF THE SANFILIPPO TYPE A SYNDROMEHOPWOOD JJ; ELLIOTT H.1981; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1981; VOL. 112; NO 1; PP. 55-66; BIBL. 19 REF.Article

THE DIAGNOSIS OF THE SANFILIPPO C SYNDROME, USING MONOSACCHARIDE AND OLIGOSACCHARIDE SUBSTRATES TO ASSAY ACETYL-COA: 2-AMINO-2-DEOXY-ALPHA -GLUCOSIDE N-ACETYLTRANSFERASE ACTIVITYHOPWOOD JJ; ELLIOTT H.1981; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1981; VOL. 112; NO 1; PP. 67-75; BIBL. 18 REF.Article

Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfataseELLIOTT, H; HOPWOOD, J. J.Analytical biochemistry. 1984, Vol 138, Num 1, pp 205-209, issn 0003-2697Article

Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological studyNIDIFFER, F. D; KELLY, T. E.Journal of mental deficiency research. 1983, Vol 27, Num 3, pp 185-203, issn 0022-264XArticle

SANFILIPPO TYPE C DISEASE: CLINICAL FINDINGS IN FOUR PATIENTS WITH A NEW VARIANT OF MUCOPOLYSACCHARIDOSIS IIIBARTSOCAS C; GROBE H; VAN DE KAMP JJP et al.1979; EUROP. J. PEDIATR.; DEU; DA. 1979; VOL. 130; NO 4; PP. 251-258; BIBL. 14 REF.Article

CLINICAL HETEROGENEITY IN SANFILIPPO DISEASE (MUCOPOLYSACCHARIDOSIS III) TYPE D: PRESENTATION OF TWO NEW CASESCOPPA GV; GIORGI PL; FELICI L et al.1983; EUROPEAN JOURNAL OF PEDIATRICS; ISSN 0340-6199; DEU; DA. 1983; VOL. 140; NO 2; PP. 130-133; BIBL. 17 REF.Article

RAPID IDENTIFICATION OF SAN FILIPPO DISEASE (MPSIII)KELLY S; SCHEDLBAUER L; LEIKHIM E et al.1978; HEALTH LAB. SCI.; USA; DA. 1978; VOL. 15; NO 3; PP. 123-127; BIBL. 9 REF.Article

GENETIC HETEROGENEITY AND CLINICAL VARIABILITY IN THE SANFILIPPO SYNDROME (TYPES A, B, AND C)VAN DE KAMP JJP; NIERMEIJER MF; VON FIGURA K et al.1981; CLIN. GENET.; ISSN 0009-9163; DNK; DA. 1981; VOL. 20; NO 2; PP. 152-160; BIBL. 20 REF.Article

LA PRIMA FAMIGLIA ITALIANA AFFETTA DA MALATTIA DI SANFILIPPO TIPO A. = LA PREMIERE FAMILLE ITALIENNE ATTEINTE DE LA MALADIE DE SANFILIPPO TYPE ACARLOMAGNO S; PASCOTTO A; MILITERNI R et al.1977; ACTA NEUROL.; ITAL.; DA. 1977; VOL. 32; NO 1; PP. 97-107; ABS. ANGL.; BIBL. 19 REF.Article

SANFILIPPO SYNDROME TYPE C: DEFICIENCY OF ACETYL-COA: ALPHA -GLUCOSAMINIDE N-ACETYLTRANSFERASE IN SKIN FIBROBLASTSKLEIN U; KRESSE H; VON FIGURA K et al.1978; PROC. NATION. ACAD. SCI.; USA; DA. 1978; VOL. 75; NO 10; PP. 5185-5189; BIBL. 39 REF.Article

DETECTION OF THE SANFILIPPO TYPE B SYNDROME USING RADIOLABELLED OLIGOSACCHARIDES AS SUBSTRATES FOR THE ESTIMATION OF ALPHA -N-ACETYLGLUCOSAMINIDASEHOPWOOD JJ; ELLIOTT H.1982; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1982; VOL. 120; NO 1; PP. 77-86; BIBL. 17 REF.Article

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

Mobilization of heparan sulfate induced by immunostimulation in a patient with mucopolysaccharidosis IIIAZERIAL, M; FLORIO, C; DOLZANI, L et al.Biochemical medicine. 1984, Vol 31, Num 2, pp 228-235, issn 0006-2944Article

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

ISOLATION AND CHARACTERIZATION OF N-ACETYLGLUCOSAMINE 6-SULFATE FROM THE URINE OF A PATIENT WITH SANFILIPPO TYPE D SYNDROME AND ITS OCCURRENCE IN NORMAL URINEHOPWOOD JJ; ELLIOTT H.1983; BIOCHEMISTRY INTERNATIONAL; ISSN 0158-5231; AUS; DA. 1983; VOL. 6; NO 6; PP. 831-836; BIBL. 12 REF.Article

SANFILIPPO A SYNDROME IN THE FETUS.GREENWOOD RS; HILLMAN RE; ALCALA H et al.1978; CLIN. GENET.; DENM.; DA. 1978; VOL. 13; NO 3; PP. 241-250; BIBL. 36 REF.Article

CHARACTERIZATION OF GLYCOSAMINOGLYCANS STORED IN MUCOPOLYSACCHARIDOSIS III A: EVIDENCE FOR A GENERALLY OCCURRING DEGRADATION OF HEPARAN SULFATE BY ENDOGLYCOSIDASES.KINDLER A; KLEIN U; VON FIGURA K et al.1977; Z. (HOPPE-SEYLER'S) PHYSIOL. CHEM.; DTSCH.; DA. 1977; VOL. 358; NO 11; PP. 1431-1438; ABS. ALLEM.; BIBL. 26 REF.Article