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ADVANCES IN THE TREATMENT OF INHERITED METABOLIC DISEASESDESNICK RJ; GRABOWSKI GA.1981; ADV. HUM. GENET.; ISSN 0065-275X; USA; DA. 1981; VOL. 11; PP. 281-369; BIBL. 376 REF.Article

PURIFICATION AND PROPERTIES OF DELTA -AMINOLEVULINATE DEHYDRASE FROM HUMAN ERYTHROCYTESANDERSON PM; DESNICK RJ.1979; J. BIOL. CHEM.; USA; DA. 1979; VOL. 254; NO 15; PP. 6924-6930; BIBL. 29 REF.Article

ENZYME THERAPY. DIFFERENTIAL IN VIVO RETENTION OF BOVINE HEPATIC, RENAL, AND SPLENIC BETA -GLUCURONIDASES AND EVIDENCE FOR ENZYME STABILIZATION BY INTERMOLECULAR EXCHANGE.FIDDLER MB; DESNICK RJ.1977; ARCH. BIOCHEM. BIOPHYS.; U.S.A.; DA. 1977; VOL. 179; NO 2; PP. 397-408; BIBL. 35 REF.Article

A NEW CONTINUOUS, MONODIMENSIONAL ELECTROPHORETIC SYSTEM FOR THE SEPARATION AND QUANTITATION OF INDIVIDUAL GLYCOSAMINOGLYCANSSCHUCHMAN EH; DESNICK RJ.1981; ANAL. BIOCHEM.; ISSN 0003-2697; USA; DA. 1981; VOL. 117; NO 2; PP. 419-426; BIBL. 11 REF.Article

PUNCTATE LENTICULAR OPACITIES IN TYPE II MANNOSIDOSIS.LETSON RD; DESNICK RJ.1978; AMER. J. OPHTHALMOL.; U.S.A.; DA. 1978; VOL. 85; NO 2; PP. 218-224; BIBL. 23 REF.Article

ENZYME THERAPY. VI. COMPARATIVE IN VIVO FATES AND EFFECTS ON LYSOSOMAL INTEGRITY OF ENZYME ENTRAPPED IN NEGATIVELY AND POSITIVELY CHARGED LIPOSOMES.STEGER LD; DESNICK RJ.1977; BIOCHIM. BIOPHYS. ACTA; PAYS-BAS; DA. 1977; VOL. 464; NO 3; PP. 530-546; BIBL. 1 P.Article

ABBREVIATED PR INTERVAL IN MANNOSIDOSIS.MEHTA J; DESNICK RJ.1978; J. PEDIATR.; U.S.A.; DA. 1978; VOL. 92; NO 4; PP. 599-601; BIBL. 12 REF.Article

IMMUNOLOGICAL EVALUATION OF REPEATED ADMINISTRATION OF ERYTHROCYTE-ENTRAPPED PROTEIN TO C3H/MEJ MICE.FIDDLER MB; HUDSON LDS; DESNICK RJ et al.1977; BIOCHEM. J.; G.B.; DA. 1977; VOL. 168; NO 2; PP. 141-145; BIBL. 13 REF.Article

MANNOSIDOSIS: PATHOLOGY OF THE NERVOUS SYSTEM.JOO HO SUNG; HAYANO M; DESNICK RJ et al.1977; J. NEUROPATHOL. EXPER. NEUROL.; U.S.A.; DA. 1977; VOL. 36; NO 5; PP. 807-820; BIBL. 1 P. 1/2Article

TAY-SACHS DISEASE: AN IMPROVED, FULLY-AUTOMATED METHOD FOR HETEROZYGOTE IDENTIFICATION BY TEAR BETA -HEXOSAMINIDASE ASSAY.GOLDBERG JD; TRUEX JH; DESNICK RJ et al.1977; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1977; VOL. 77; NO 1; PP. 43-52; BIBL. 12 REF.Article

CHARACTERIZATION OF HEX S, THE MAJOR RESIDUAL BETA HEXOSAMINIDASE ACTIVITY IN TYPE OGM2 GANGLIOSIDOSIS (SANDHOFF-JATZKEWITZ DISEASE).IKONNE JU; RATTAZZI MC; DESNICK RJ et al.1975; AMER. J. HUM. GENET.; U.S.A.; DA. 1975; VOL. 27; NO 5; PP. 639-650; BIBL. 2 P.Article

ACUTE MYELOGENOUS LEUKAEMIA IN HURLER' SYNDROME.CHEN KTK; MCKENNA RW; DESNICK RJ et al.1978; J. MED. GENET.; GBR; DA. 1978; VOL. 15; NO 3; PP. 239-242; BIBL. 13 REF.Article

TOWARD ENZYME THERAPY FOR LYSOSOMAL STORAGE DISEASEDESNICK RJ; THORPE SR; FIDDLER MB et al.1976; PHYSIOL. REV.; U.S.A.; DA. 1976; VOL. 56; NO 1; PP. 57-99; BIBL. 5 P. 1/2Article

FLUOROMETRIC COUPLED-ENZYME ASSAY FOR DELTA-AMINOLEVULINATE SYNTHASEBISHOP DF; MCBRIDE L; DESNICK RJ et al.1982; ENZYME; ISSN 0013-9432; CHE; DA. 1982; VOL. 28; NO 2-3; PP. 94-108; BIBL. DISSEM.Article

THE LIVER IN INHERITED METABOLIC DISEASES OF CHILDHOOD = FOIE ET MALADIES METABOLIQUES HEREDITAIRES DE L'ENFANCESHARP HL; DESNICK RJ; KRIVIT W et al.1972; PROGR. LIVER DIS.; U.S.A.; DA. 1972; VOL. 4; PP. 463-488; BIBL. 4 P.Serial Issue

CENTRAL RETINAL ARTERY OCCLUSION COMPLICATING FABRY'S DISEASE.SHER NA; REIFF W; LETSON RD et al.1978; ARCH. OPHTHALMOL.; USA; DA. 1978; VOL. 96; NO 5; PP. 815-817; BIBL. 22 REF.Article

CLINICAL AND EXPERIMENTAL TRANSPLANTATION IN ENZYMATIC DEFICIENCY DISEASE.MATAS AJ; DESNICK RJ; NAJARIAN JS et al.1978; SURG. GYNECOL. OBSTETR.; USA; DA. 1978; VOL. 146; NO 6; PP. 975-982; BIBL. 1 P. 1/2Article

FABRY DISEASE: DIAGNOSIS BY ALPHA -GALACTOSIDASE ACTIVITIES IN TEARS. = MALADIE DE FABRY: DIAGNOSTIC PAR L'ACTIVITE ALPHA -GALACTOSIDASIQUE DES LARMESJOHNSON DL; DELMONTE MA; COTLIER E et al.1975; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1975; VOL. 63; NO 1; PP. 81-90; BIBL. 23 REF.Article

THE M-MODE ECHOCARDIOGRAM IN FABRY'S DISEASEBASS JL; SHRIVASTAVA S; GRABOWSKI GA et al.1980; AM. HEART J.; ISSN 0002-8703; USA; DA. 1980; VOL. 100; NO 6; PART. 1; PP. 807-812; BIBL. 9 REF.Article

FACTORS FOR IMPROVED GENETIC COUNSELING FOR RETINOBLASTOMA BASED ON A SURVEY OF 55 FAMILIESCARLSON EA; LETSON RD; RAMSAY NKC et al.1979; AMER. J. OPHTHALMOL.; USA; DA. 1979; VOL. 87; NO 4; PP. 449-459; BIBL. 22 REF.Article

PURIFICATION AND PROPERTIES OF FELINE AND HUMAN ARYLSULFATASE B ISOZYMES. EVIDENCE FOR FELINE HOMODIMERIC AND HUMAN MONOMERIC STRUCTURESMCGOVERN MM; VINE DT; HASKINS ME et al.1982; JOURNAL OF BIOLOGICAL CHEMISTRY; ISSN 0021-9258; USA; DA. 1982; VOL. 257; NO 21; PP. 12605-12610; BIBL. 33 REF.Article

CHARACTERIZATION OF THE PORPHOBILINOGEN DEAMINASE DEFICIENCY IN ACUTE INTERMITTENT PORPHYRIA: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECTANDERSON PM; REDDY RM; ANDERSON KE et al.1981; J. CLIN. INVEST.; ISSN 0021-9738; USA; DA. 1981; VOL. 68; NO 1; PP. 1-12; BIBL. 43 REF.Article

CHRONIC GM2 GANGLIOSIDOSIS MASQUERADING AS ATYPICAL FRIEDREICH ATAXIA: CLINICAL, MORPHOLOGIC, AND BIOCHEMICAL STUDIES OF NINE CASESWILLNER JP; GRABOWSKI GA; GORDON RE et al.1981; NEUROLOGY; ISSN 0028-3878; USA; DA. 1981; VOL. 31; NO 7; PP. 787-798; BIBL. 44 REF.Article

RAPID DETERMINATION OF DELTA -AMINOLEVULINATE SYNTHASE ACTIVITY BY A SPECIFIC FLUOROMETRIC COUPLED ENZYME ASSAYBISHOP DF; DEVEY KR; MCBRIDE L et al.1981; ANAL. BIOCHEM.; ISSN 0003-2697; USA; DA. 1981; VOL. 113; NO 1; PP. 68-78; BIBL. 57 REF.Article

ENZYME THERAPY. XIV: COMPARISON OF METHODS FOR ENZYME ENTRAPMENT IN HUMAN ERYTHROCYTESFIDDLER MB; HUDSON LDS; WHITE JG et al.1980; J. LAB. CLIN. MED.; ISSN 0022-2143; USA; DA. 1980; VOL. 96; NO 2; PP. 307-317; BIBL. 33 REF.Article

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