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 FIRST CASE OF THE SANFILIPPO TYPE C SYNDROME IN SCANDINAVIAARVIDSSON J; CHESTER MA; HECHT H et al.1983; ACTA PAEDIATRICA SCANDINAVICA; ISSN 0001-656X; SWE; DA. 1983; VOL. 72; NO 2; PP. 313-316; BIBL. 16 REF.Article

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

Second trimester prenatal diagnosis of Sanfilippo syndromes type CMAIRE, I; EPELBAUM, S; PIRAUD, M et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 3, pp 584-586, issn 0141-8955Article

COMMUNICATING HYDROCEPHALUS IN CHILDREN WITH GENETIC IN BORN ERRORS OF METABOLISM = HYDROCEPHALIE COMMUNICANTE CHEZ LES ENFANTS AVEC ERREURS INNEES DU METABOLISMEFOWLER GW; SUKOFF M; HAMILTON A et al.1975; CHILD'S BRAIN; SWITZ.; DA. 1975; VOL. 1; NO 4; PP. 251-254; BIBL. 10 REF.Article

EFFECTS OF FRESH PLASMA OR WHOLE BLOOD TRANSFIONS ON PATIENTS WITH VARIOUS TYPES OF MUCOPOLYSACCHARIDOSIS = EFFETS DES TRANSFUSIONS DE PLASMA FRAIS OU DE SANG TOTAL SUR LES MALADES ATTEINTS DE DIVERS TYPES DE MUCOPOLYSACCHARIDOSEDEKABAN AS; HOLDEN KR; CONSTANTOPOULOS G et al.1972; PEDIATRICS; U.S.A.; DA. 1972; VOL. 50; NO 5; PP. 688-692; BIBL. 12REF.Serial Issue

MUCOPOLYSACCHARIDES SYNTHESIZED BY CULTURED GLIAL CELLS DERIVED FROM A PATIENT WITH SANFILIPPO A SYNDROME. = SYNTHESE DE MUCOPOLYSACCHARIDES PAR DES CELLULES GLIALES CULTIVEES OBTENUES D'UN PATIENT PRESENTANT UN SYNDROME DE SANFILIPPO AFLUHARTY AL; DAVIS ML; TRAMMELL JL et al.1975; J. NEUROCHEM.; G.B.; DA. 1975; VOL. 25; NO 4; PP. 429-435; H.T. 2; BIBL. 22 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

SANFILIPPO DISEASE TYPE B: PRESENCE OF MATERIAL CROSS REACTING WITH ANTIBODIES AGAINST ALPHA -N-ACETYLGLUCOSAMINIDASEVON FIGURA K; KRESSE H.1975; EUROP. J. BIOCHEM.; GERM.; DA. 1975; VOL. 61; PP. 581-588; BIBL. 22 REF.Article

CARATTERISTICHE DELL'EPARANSOLFATO URINARIO IN CINQUE CASI DI SINDROME DI SANFILIPPO = CARACTERISTIQUES DU SULFATE D'HEPARANE URINAIRE DANS 5CAS DE SYNDROME DE SANFILIPPOFOSSATI G; SINIGAGLIA F; CALATRONI A et al.1974; BOLL. SOC. ITAL. BIOL. SPER.; ITAL.; DA. 1974; VOL. 50; NO 19; PP. 1552-1958; BIBL. 20REF.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

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

THE EFFECT OF DEXTRAN INFUSIONS ON GLYCOSAMINOGLYCAN EXCRETION IN THE SANFILIPPO SYNDROME = EFFET DE PERFUSIONS DE DEXTRAN SUR L'EXCRETION DES GLYCOSAMINOGLYCANES DANS LE SYNDROME DE SANFILIPPODEAN MF; BENSON PF; MUIR H et al.1975; DEVELOP. MED. CHILD NEUROL.; G.B.; DA. 1975; VOL. 17; NO 1; PP. 47-51; ABS. FR. ALLEM. ESP.; BIBL. 15REF.Article

OCULAR HISTOPATHOLOGY IN MUCOPOLYSACCHARIDOSIS III (SANFILIPPO) = HISTOPATHOLOGIE OCULAIRE DANS LA MUCOPOLYSACCHARIDOSE III (SANFILIPPO)VOGEL MH; MUELLER KM; WITTING C et al.1974; OPHTHALMOLOGICA; SUISSE; DA. 1974; VOL. 169; NO 4; PP. 311-319; BIBL. 1P.Article

SERUM DEPENDENCY OF CELLULAR PHENOTYPE IN MUCOPOLYSACCHARIDOSES: THE INFLUENCE OF AUTOLOGOUS SERUM ON METACHROMASIA = DEPENDANCE VIS-A-VIS DU SERUM DU PHENOTYPE CELLULAIRE DES MUCOPOLYSACCHARIDOSES: INFLUENCE DU SERUM AUTOLOGUE SUR LA METACHROMASIETEN KATE LP; ANDERS GJPA; DE GROOT CJ et al.1973; HUMANGENETIK; DTSCH.; DA. 1973; VOL. 18; NO 1; PP. 95-98; ABS. ALLEM.; BIBL. 10 REF.Serial Issue

ANATOMO-PATHOLOGIE ET ETUDE DES LIPIDES DANS LES MUCOPOLYSACCHARIDOSES DE TYPE HURLER ET SAN FILIPPODEKABAN AG; PATTON VM.1973; NOUV. PRESSE MED.; FR.; DA. 1973; VOL. 2; NO 7; PP. 415-417; BIBL. 7REF.Serial Issue

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

SANFILIPPO DISEASE: DIFFERENTIATION OF TYPES A AND B BY AN ANALYTICAL METHOD = MALADIE DE SANFILIPPO: DIFFERENCIATION DES TYPES A ET B PAR UNE METHODE ANALYTIQUESINGH J; DONNELLY PV; DI FERRANTE N et al.1974; J. LAB. CLIN. MED.; U.S.A.; DA. 1974; VOL. 84; NO 3; PP. 438-450; BIBL. 1P.1/2Article

THE GENETIC MUCOPOLYSACCHARIDOSES (GMS) = LES MUCOPOLYSACCHARIDOSES GENETIQUES (GMS)HAUST MD.1973; INTERNATION. REV. EXPER. PATHOL.; U.S.A.; DA. 1973; VOL. 12; PP. 251-314; BIBL. 7P.1/2Serial Issue

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

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