STUDIES ON THE SIALIDOSES: PROPERTIES OF HUMAN LEUCOCYTE NEURAMINIDASESNGUYEN HONG V; BEAUREGARD G; POTIER M et al.1980; BIOCHIM. BIOPHYS. ACTA; ISSN 0006-3002; NLD; DA. 1980; VOL. 616; NO 2; PP. 259-270; BIBL. 59 REF.Article

MUCOLIPIDOSIS I (ACID NEURAMINIDASE DEFICIENCY): THREE CASES AND DELINEATION OF THE VARIABILITY OF THE PHENOTYPEKELLY TE; BARTOSHESKY L; HARRIS DJ et al.1981; AM. J. DIS. CHILD. (1960); ISSN 0002-922X; USA; DA. 1981; VOL. 135; NO 8; PP. 703-708; BIBL. 22 REF.Article

EEG IN MUCOLIPIDOSIS I. = L'EEG DANS LA MUCOLIPIDOSE DE TYPE IDOOSE H; SPRANGER J; WARNER M et al.1975; NEUROPAEDIATRIE; DTSCH.; DA. 1975; VOL. 6; NO 1; PP. 98-101; ABS. ALLEM.; BIBL. 5REF.Article

A severe infantile mucolipidosis: clinical, biochemical, and pathologic featuresRICHES, W. G; SMUCKLER, E. A.Archives of pathology & laboratory medicine (1976). 1983, Vol 107, Num 3, pp 147-152, issn 0363-0153Article

MUCOLIPIDOSIS I: STUDIES OF SIALIDASE ACTIVITY AND A PRENATAL DIAGNOSISMUELLER OT; WENGER DA.1981; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1981; VOL. 109; NO 3; PP. 313-324; BIBL. 28 REF.Article

The structure of sialyl-glycopeptides of the O-glycosidic type, isolated from sialidosis (mucolipidosis I) urineLECAT, D; LEMONNIER, M; DERAPPE, C et al.European journal of biochemistry (Print). 1984, Vol 140, Num 2, pp 415-420, issn 0014-2956Article

Déficit primitif en neuraminidase à révélation anté-natale = Primitive neuraminidase deficiency with prenatal manifestationsTABARDEL, Y; SOYEUR, D; VIVARIO, E et al.Archives françaises de pédiatrie. 1989, Vol 46, Num 10, pp 737-740, issn 0003-9764, 4 p.Article

POLYMORPHISMS OF APOLIPOPROTEIN C-III IN TWO CASES WITH SIALIDASE DEFICIENCYMAEDA H; UZAWA H; NAKAMURA N et al.1981; LIFE SCI. (1973); ISSN 0024-3205; GBR; DA. 1981; VOL. 29; NO 20; PP. 2065-2069; BIBL. 22 REF.Article

Proteinuria in a child with sialidosis: case report and histological studiesKASHTAN, C. E; NEVINS, T. E; POSALAKY, Z et al.Pediatric nephrology (Berlin, West). 1989, Vol 3, Num 2, pp 166-174, issn 0931-041XArticle

RADIOASSAY METHOD OF NEURAMINIDASE TOWARDS N-ACETYLNEURAMINOSYL HEXASACCHARIDESKURIYAMA M; SOMEYA F; YAMADA T et al.1982; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1982; VOL. 119; NO 1-2; PP. 73-80; BIBL. 24 REF.Article

Accumulation of [³H] sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [³H]-N-acetylmannosamineSCOCCA, J; THOMAS, G. H; REYNOLDS, L et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 1, pp 79-88, issn 0141-8955Article

Observation oto-neurologique d'un cas de sialidose = Otoneurology in a case of sialidosisNUTI, D; LIVI, W; CIPOLLA, G et al.Journal français d'oto-rhino-laryngologie (1977). 1983, Vol 32, Num 1, pp 45-47, issn 0398-9771Article

INFANTILE LETHAL NEURAMINIDASE DEFICIENCY (SIALIDOSIS)LAVER J; FRIED K; BEER SI et al.1983; CLINICAL GENETICS; ISSN 0009-9163; DNK; DA. 1983; VOL. 23; NO 2; PP. 97-101; BIBL. 11 REF.Article

PROPERTIES OF N-ACETYL-BETA -D-HEXOSAMINIDASE FROM ISOLATED NORMAL AND I-CELL LYSOSOMESMILLER AL; KRESS BC; STEIN R et al.1981; J. BIOL. CHEM.; ISSN 0021-9258; USA; DA. 1981; VOL. 256; NO 17; PP. 9352-9362; BIBL. 42 REF.Article

Pathological study on a severe sialidosis (α-neuraminidase deficiency)YAMANO, T; SHIMADA, M; MATSUZAKI, K et al.Acta neuropathologica. 1986, Vol 71, Num 3-4, pp 278-284, issn 0001-6322Article

N-acetylneuraminic acid storage diseaseBAUMKÖTTER, J; CANTZ, M; MENDLA, K et al.Human genetics. 1985, Vol 71, Num 2, pp 155-159, issn 0340-6717Article

Cherry-red spot myoclonus syndrome (type I sialidosis)FEDERICO, A; BATTISTINI, S; CIACCI, G et al.Developmental neuroscience. 1991, Vol 13, Num 4-5, pp 320-326, issn 0378-5866Article

Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(³H)-neuraminic acid in cultured human fibroblastsPASCHKE, E; HOFLER, G; ROSCHER, A et al.Pediatric research. 1986, Vol 20, Num 8, pp 773-777, issn 0031-3998Article

BETA -GALACTOSIDASE-NEURAMINIDASE DEFICIENCY. DEFICIENCY OF A FREEZE-LABILE NEURAMINIDASE IN LEUKOCYTES AND FIBROBLASTSSAKURABA H; SUZUKI Y; FUKUOKA K et al.1982; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; NO 2; PP. 79-80; BIBL. 2 REF.Article

SIALIDOSIS TYPE 2 (ACID NEURAMINIDASE DEFICIENCY): CLINICAL AND BIOCHEMICAL FEATURES OF A FURTHER CASEWINTER RM; SWALLOW DM; BARAITSER M et al.1980; CLIN. GENET.; ISSN 0009-9163; DNK; DA. 1980; VOL. 18; NO 3; PP. 203-210; BIBL. 2 P.Article

BIOCHEMICAL COMPARISON OF THE DYSMORPHIC TYPE WITH THE NORMOSOMATIC TYPE OF SIALIDOSISKOBAYASHI T; GOTO I; TANAKA Y et al.1980; CLIN. CHIM. ACTA; NLD; DA. 1980; VOL. 103; NO 3; PP. 343-347; BIBL. 14 REF.Article

PARTIAL CHARACTERIZATION AND STUDIES OF FIBROBLAST AND LEUCOCYTE NEURAMINIDASE ACTIVITIES TOWARDS SIALYLOLIGOSACCHARIDES IN ADULT SIALIDOSIS AND MUCOLIPIDOSIS II AND IIIKURIYAMA M; SOMEYA F; MIYATAKE T et al.1981; BIOCHIM. BIOPHYS. ACTA; ISSN 0006-3002; NLD; DA. 1981; VOL. 662; NO 2; PP. 220-225; BIBL. 19 REF.Article

OLIGOSACCHARIDE AND GANGLIOSIDE NEURAMINIDASE ACTIVITIES OF MUCOLIPIDOSIS I (SIALIDOSIS) AND MUCOLIPIDOSIS II (I-CELL DISEASE) FIBROBLASTSCANTZ M; MESSER H.1979; EUROP. J. BIOCHEM.; DEU; DA. 1979; VOL. 97; NO 1; PP. 113-118; BIBL. 42 REF.Article

STRUCTURES OF SIALYL-OLIGOSACCHARIDES EXCRETED IN THE URINE OF A PATIENT WITH MUCOLIPIDOSIS I.MICHALSKI JC; STRECKER G; FOURNET B et al.1977; F.E.B.S. LETTERS; NETHERL.; DA. 1977; VOL. 79; NO 1; PP. 101-104; BIBL. 11 REF.Article

HYPERGLYCOPEPTIDURIA IN GENETIC MUCOLIPIDOSES = HYPERGLYCOPEPTIDURIE DANS LES MUCOLIPIDOSES GENETIQUESORII T; CHIBA T; MINAMI R et al.1974; TOHOKU J. EXPER. MED.; JAP.; DA. 1974; VOL. 112; NO 4; PP. 373-380; BIBL. 17REF.Article