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Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotypeSCOTT, H. S; NELSON, P. V; LITJENS, T et al.Human molecular genetics (Print). 1993, Vol 2, Num 9, pp 1471-1473, issn 0964-6906Article

Human α-L-iduronidase : cDNA isolation and expressionSCOTT, H. S; ANSON, D. S; ORSBORN, A. M et al.Proceedings of the National Academy of Sciences of the United States of America. 1991, Vol 88, Num 21, pp 9695-9699, issn 0027-8424Article

Purification, characterization and subcellular localization of pig liver α-L-iduronidaseOHSHITA, T; SAKUDA, H; NAKASONE, S et al.European journal of biochemistry (Print). 1989, Vol 179, Num 1, pp 201-207, issn 0014-2956Article

PRENATAL EXCLUSION OF HURLER'S DISEASE BY LEUCOCYTE ALPHA -L-IDURONIDASE ASSAYRODECK CH; TANSLEY RL; BENSON PF et al.1983; PRENATAL DIAGNOSIS; ISSN 0197-3851; GBR; DA. 1983; VOL. 3; NO 1; PP. 61-63; BIBL. 8 REF.Article

Human α-L-iduronidase : catalytic properties and an integrated role in the lysosomal degradation of heparan sulphateFREEMAN, C; HOPWOOD, J. J.Biochemical journal (London. 1984). 1992, Vol 282, pp 899-908, issn 0264-6021, 3Article

Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma α-L-iduronidaseMANDELLI, Jovana; WAJNER, Alessandro; PIRES, Ricardo et al.Clinica chimica acta. 2001, Vol 312, Num 1-2, pp 81-86, issn 0009-8981Article

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locusSCOTT, H. S; NELSON, P. V; MACDONALD, M. E et al.Genomics (San Diego, Calif.). 1992, Vol 14, Num 4, pp 1118-1120, issn 0888-7543Article

THE USE OF ALPHA -L-IDURONIDASE ACTIVITY DETERMINATIONS IN LEUCOCYTES FOR THE DETECTION OF HURLER AND SCHEIE SYNDROMES = UTILISATION DU DOSAGE DE L'ACTIVITE ALPHA -L-IDURONIDASIQUE DES LEUCOCYTES POUR LA DETECTION DES SYNDROMES DE HURLER ET DE SCHEIELIEM KO; HOOGHWINKEL GJM.1975; CLIN. CHIM. ACTA; U.S.A.; DA. 1975; VOL. 60; NO 2; PP. 259-262; BIBL. 12REF.Article

Regional assignment of the structural gene for human α-L-iduronidaseSCHUCHMAN, E. H; ASTRIN, K. H; AULA, P et al.Proceedings of the National Academy of Sciences of the United States of America. Biological sciences. 1984, Vol 81, Num 4, pp 1169-1173, issn 0273-1134Article

Selective depolymerisation of dermatan sulfate: production of radiolabelled substrates for α-L-iduronidase, sulfoiduronate sulfatase, and β-D-glucuronidaseHOPWOOD, J. J; MULLER, V. J.Carbohydrate research. 1983, Vol 122, Num 2, pp 227-239, issn 0008-6215Article

Huntington disease-linked locus D4S111 exposed as the α-L-iduronidase geneMACDONALD, M. E; SCOTT, H. S; WHALEY, W. L et al.Somatic cell and molecular genetics. 1991, Vol 17, Num 4, pp 421-425, issn 0740-7750Article

Immunopurification and characterization of human α-L-iduronidase with the use of monoclonal antibodiesCLEMENTS, P. R; BROOKS, D. A; MCCOURT, P. A. G et al.Biochemical journal (London. 1906). 1989, Vol 259, Num 1, pp 199-208, issn 0006-2936Article

Hurler-Scheie phenotype associated with consanguinityDAVIES, D. L; DUTTON, G. N; FARQUHARSON, J et al.Journal of inherited metabolic disease. 1989, Vol 12, pp 365-368, issn 0141-8955, suppl. 2Article

α-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblastsTAYLOR, J. A; GIBSON, G. J; BROOKS, D. A et al.Biochemical journal (London. 1984). 1991, Vol 274, pp 263-268, issn 0264-6021, 6 p., 1Article

A METHOD FOR ALPHA -L-IDURONIDASE ASSAYJAGAT SINGH; NIEBES P; DI FERRANTE N et al.1974; F.E.B.S. LETTERS; NETHERL.; DA. 1974; VOL. 45; NO 1; PP. 248-251; BIBL. 12REF.Article

MATURATION OF ALPHA -L-IDURONIDASE IN CULTURED HUMAN FIBROBLASTSMYEROWITZ R; NEUFELD EF.1981; J. BIOL. CHEM.; ISSN 0021-9258; USA; DA. 1981; VOL. 256; NO 6; PP. 3044-3048; BIBL. 28 REF.Article

ALPHA -L-IDURONIDASE-AKTIVITAET IN FIBROBLASTEN VON PATIENTEN MIT HURLER-SYNDROM. = L'ACTIVITE DE LA ALPHA -U6-IDURONIDASE DANS LES FIBROBLASTES DE MALADES AYANT UN SYNDROME DE HURLERSTAREPRAWO G; GRIMM U; MACHILL G et al.1975; ACTA BIOL. MED. GERM.; ALLEM.; DA. 1975; VOL. 34; NO 6; PP. 1079-1082; BIBL. 9 REF.Article

Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndromeCOX-BRINKMAN, J; BOELENS, J.-J; WRAITH, J. E et al.Bone marrow transplantation (Basingstoke). 2006, Vol 38, Num 1, pp 17-21, issn 0268-3369, 5 p.Article

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosisWANG, X; ZHANG, W; SHI, H et al.Clinical genetics. 2012, Vol 81, Num 5, pp 443-452, issn 0009-9163, 10 p.Article

Pathologic studies of lysosomal storage diseaseIWAMASA, T; SAKUDA, H; NAKASONE, S et al.Acta histochemica et cytochemica. 1990, Vol 23, Num 1, pp 65-80, issn 0044-5991, 16 p.Article

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulationKEELING, Kim M; BROOKS, Doug A; HOPWOOD, John J et al.Human molecular genetics (Print). 2001, Vol 10, Num 3, pp 291-299, issn 0964-6906Article

Identification of mutations in the α-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromesSCOTT, H. S; LITJENS, T; NELSON, P. V et al.American journal of human genetics. 1993, Vol 53, Num 5, pp 973-986, issn 0002-9297Article

STUDIES ON THE ALPHA -L-IDURONIDASE ACTIVITY OF BETA -GLUCURONIDASE PREPARATIONS FROM BOVINE LIVER, RAT LIVER, AND RAT PREPUTIAL GLANDKOSAKA H; ISEMURA M; ONO T et al.1980; J. BIOCHEM.; JPN; DA. 1980; VOL. 88; NO 1; PP. 69-75; BIBL. 16 REF.Article

SUBSTRATES FOR THE ASSAY OF ALPHA -L-IDURONIDASETHOMPSON JN.1978; CLIN. CHIM. ACTA; NLD; DA. 1978; VOL. 89; NO 3; PP. 435-446; BIBL. 28 REF.Article

Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-1-iduronidase geneFURUKAWA, Yutaka; HAMAGUCHI, Ayumi; IWASA, Kazuo et al.Journal of the neurological sciences. 2011, Vol 302, Num 1-2, pp 121-125, issn 0022-510X, 5 p.Article

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