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Results 1 to 25 of 328

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BETA-GALACTOSIDASE DEFICIENT-TYPE MUCOLIPIDOSIS: A COMPLEMENTATION STUDY OF NEURAMINIDASE IN SOMATIC CELL HYBRIDSKATO T; OKADA S; YUTAKA T et al.1979; BIOCHEM. BIOPHYS. RES. COMMUNIC.; USA; DA. 1979; VOL. 91; NO 1; PP. 114-117; BIBL. 14 REF.Article

URINARY LYSOSOMAL HYDROLASES IN MUCOLIPIDOSIS II AND MUCOLIPIDOSIS IIIKRESS BC; MILLER AL.1979; BIOCHEM. J.; GBR; DA. 1979; VOL. 177; NO 2; PP. 409-415; BIBL. 39 REF.Article

CARBOHYDRATE COMPOSITION OF PURIFIED SERUMS GLYCOPROTEINS IN MUCOLIPIDOSIS II AND MUCOLIPIDOSIS IIIFREEZE H; KRESS BC; WILLIAMS JC et al.1978; MOLEC. CELL. BIOCHEM.; NLD; DA. 1978; VOL. 21; NO 1; PP. 17-21; BIBL. 29 REF.Article

ETUDES SUR LES PRECIPITES URINAIRES DE CETYLPYRIDINIUM CHLORIDE ET DE NON-CETYLPYRIDINIUM CHLORIDE CHEZ DES ENFANTS NORMAUX ET DES MALADES AVEC DES MUCOPOLYSACCHARIDOSES, DES MUCOLIPIDOSES ET DES LIPIDOSES. HYPERGLYCOPEPTIDURIE DANS LES MUCOLIPIDOSESCHIBA T.1973; SAPPORO MED. J.; JAP.; DA. 1973; VOL. 42; NO 6; PP. 420-434; ABS. ANGL.; BIBL. 51 REF.Article

DEFICIENT PHOSPHORYLATION OF MANNOSE RESIDUES OF MANNAN IN FIBROBASTS OF PATIENTS WITH MUCOLIPIDOSES II AND IIIBEN YOSEPH Y; HAHN LC; DEFRANCO CL et al.1981; BIOCHEM. J. (LOND.); ISSN 0006-2936; GBR; DA. 1981; VOL. 193; NO 2; PP. 651-654; BIBL. 23 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

PLASMA ALPHA -D-MANNOSIDASE IN MUCOLIPIDOSIS II AND MUCOLIPIDOSIS IIIHIRANI S; WINCHESTER B.1980; CLIN. CHIM. ACTA; NLD; DA. 1980; VOL. 101; NO 2-3; PP. 251-256; BIBL. 16 REF.Article

AFFINITY CHROMATOGRAPHY OF LYSOSOMAL ENZYMES IN PLASMA, URINE, AND FIBROBLASTS OF PATIENTS WITH MUCOLIPIDOSIS (ML) II AND IIIDEN TANDT WR.1980; CLIN. CHIM. ACTA; NLD; DA. 1980; VOL. 102; NO 2-3; PP. 199-205; BIBL. 28 REF.Article

THE BIOCHEMICAL BASIS OF MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSES = LA BASE BIOCHIMIQUE DES MUCOPOLYSACCHARIDOSES ET DES MUCOLIPIDOSESNEUFELD EF.1974; PROGR. MED. GENET.; U.S.A.; DA. 1974; VOL. 10; PP. 81-101; BIBL. 4P.Article

DEFICIENCY OF METHYLUMBELLIFERYL-ALPHA -NEURAMINIC ACID NEURAMINIDASE IN THE SIALIDOSES AND MUCOLIPIDOSIS II AND IIIDEN TANDT WR; LEROY JG; POTIER M et al.1980; EUROP. J. PEDIATR.; DEU; DA. 1980; VOL. 133; NO 1; PP. 71-72; BIBL. 14 REF.Article

0-MHZ 1H NUCLEAR-MAGNETIC-RESONANCE SPECTROSCOPY OF SIALYL-OLIGOSACCHARIDES FROM PATIENTS WITH SIALIDOSIS (MUCOLIPIDOSIS I AND II).DORLAND L; HAVERKAMP J; VLIEGENHART JFG et al.1978; EUROP. J. BIOCHEM.; DEU; DA. 1978; VOL. 87; NO 2; PP. 323-329; BIBL. 10 REF.Article

STRUCTURE OF THE THREE MAJOR SIALYL-OLIGOSACCHARIDES EXCRETED IN THE URINE OF FIVE PATIENTS WITH THREE DISTINCT INBORN DISEASES: "I CELL DISEASE" AND TWO NEW TYPES OF MUCOLIPIDOSIS.STRECKER G; HONDI ASSAH T; FOURNET B et al.1976; BIOCHIM BIOPHYS. ACTA; PAYS-BAS; DA. 1976; VOL. 444; NO 2; PP. 349-358; BIBL. 20 REF.Article

MUCOLIPIDOSIS III IS GENETICALLY HETEROGENOUSHONEY NK; MUELLER OT; LITTLE LE et al.1982; PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. BIOLOGICAL SCIENCES; ISSN 0273-1134; USA; DA. 1982; VOL. 23; NO 79; PP. 7420-7424; BIBL. 28 REF.Article

I-CELL DISEASE. REPORT OF THREE CASES. = MALADIE A CELLULES I. OBSERVATIONS DE TROIS CASTERASHIMA Y; TSUDA K; ISOMURA S et al.1975; AMER. J. DIS. CHILD; U.S.A.; DA. 1975; VOL. 129; NO 9; PP. 1083-1090; BIBL. 19 REF.Article

Rubrique iconographique dirigée par C. Fauré et J.-Ph. Montagne = Case of the mouthCOLOME, M. F; OLEWNICZAK, G; GALLET, M et al.Archives françaises de pédiatrie. 1985, Vol 42, Num 7, pp 539-540, issn 0003-9764Article

Mucolipidoses II and III variants with normal N-acetylglucosamine I-phosphotransferase activity toward α-methylmannoside are due to nonallelic mutationsBEN-YOSEPH, Y; MITCHELL, D. A; YAGER, R. M et al.American journal of human genetics. 1992, Vol 50, Num 1, pp 137-144, issn 0002-9297Article

L'"I-CELL DISEASE" EST-ELLE UNE SIALIDOSE.FARRIAUX JP; STRECKER G; MICHALSKI JC et al.1979; BORDEAUX MED.; FRA; DA. 1979; VOL. 12; NO 13; PP. 913-914Article

LA MUCOLIPIDOSE II OU "I CELL DISEASE": A PROPOS D'UNE OBSERVATIONCOURRECH JEAN FRANCIS.1978; ; FRA; BORDEAUX: ED. BERGERET; DA. 1978; 50; 75 P.: ILL.; 24,5 CM; BIBL. 90 REF.; TH.: MED./BORDEAUX II/1978Thesis

LYMPHOCYTIC INCLUSIONS IN I-CELL DISEASE = LES INCLUSIONS LYMPHOCYTAIRES DANS LA MALADIE A CELLULES IRAPOLA J; AUTIO S; AULA P et al.1974; J. PEDIATR.; U.S.A.; DA. 1974; VOL. 85; NO 1; PP. 88-90; BIBL. 11REF.Article

MUCOLIPIDOSIS IIIROBINOW M.1974; BIRTH DEFECTS ORIGIN. ARTICLE SER.; U.S.A.; DA. 1974; VOL. 10; NO 12; PP. 267-273; BIBL. 4 REF.Article

ENDOCYTOSIS OF BETA -N-ACETYLGLUCOSAMINIDASE FROM SECTIONS OF MUCOLIPIDOSIS. II- AND III-FIBROBLASTS BY NON-PARENCHYMAL RAT LIVER CELLSULLRICH K; VON FIGURA K.1979; BIOCHEM. J.; GBR; DA. 1979; VOL. 182; NO 1; PP. 245-247; BIBL. 23 REF.Article

INTERMEDIATE GOLGI ALPHA -D-MANNOSIDOSE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH MANNOSIDOSIS AND MUCOLIPIDOSIS II AND IIANDRIA G; SLY WS.1981; PEDIATR. RES.; ISSN 0031-3998; USA; DA. 1981; VOL. 15; NO 1; PP. 70-73; BIBL. 39 REF.Article

ACID HYDROLASES IN SERUM FROM PATIENTS WITH LYSOSOMAL DISORDERSHULTBERG B; ISAKSSON A; SJOBLAD S et al.1980; CLIN. CHIM. ACTA; NLD; DA. 1980; VOL. 100; NO 1; PP. 33-38; BIBL. 15 REF.Article

ELECTROPHORETIC ABNORMALITIES OF LYSOSOMAL ENZYMES IN MUCOLIPIDOSIS FIBROBLAST LINES.CHAMPION MJ; SHOWS TB.1977; AMER. J. HUM. GENET.; U.S.A.; DA. 1977; VOL. 29; NO 2; PP. 149-163; BIBL. 2 P. 1/2Article

IDURONATE SULFATASE ACTIVITY IN SERUM, LYMPHOCYTES, AND FIBROBLASTS-SIMPLIFIED DIAGNOSIS OF THE HUNTER SYNDROME. = L'ACTIVITE IDURONATE SULFATASE DANS LE SERUM, LES LYMPHOCYTES ET LES FIBROBLASTES. SIMPLIFICATION DU DIAGNOSTIC DU SYNDROME DE HUNTERLIEBAERS I; NEUFELD EF.1976; PEDIATR. RES.; U.S.A.; DA. 1976; VOL. 10; NO 8; PP. 733-736; BIBL. 28 REF.Article

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