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Results: 1-25/32
Authors:
GUFFON N
FROISSART R
CHEVALIERPORST F
MAIRE I
Citation: N. Guffon et al., MUTATION ANALYSIS IN 11 FRENCH PATIENTS WITH FABRY-DISEASE, Human mutation, 1998, pp. 288-290
Authors:
MILLAT G
FROISSART R
CUDRY S
BONNET V
MAIRE I
BOZON D
Citation: G. Millat et al., COS CELL EXPRESSION STUDIES OF P86L, P86R, P480L AND P4480Q HUNTERS DISEASE-CAUSING MUTATIONS, Biochimica et biophysica acta. Molecular basis of disease, 1406(2), 1998, pp. 214-218
Authors:
VERVOORT R
GITZELMANN R
BOSSHARD N
MAIRE I
LIEBAERS I
LISSENS W
Citation: R. Vervoort et al., LOW BETA-GLUCURONIDASE ENZYME-ACTIVITY AND MUTATIONS IN THE HUMAN BETA-GLUCURONIDASE GENE IN MILD MUCOPOLYSACCHARIDOSIS TYPE-VII, PSEUDODEFICIENCY AND A HETEROZYGOTE, Human genetics, 102(1), 1998, pp. 69-78
Authors:
SOUILLET G
GUFFON N
MAIRE I
GUIBAUD P
Citation: G. Souillet et al., BMT IN HURLER-AND-HUNTER DISEASES - A 12 YEARS EXPERIENCE IN A SINGLEPEDIATRIC CENTER, Bone marrow transplantation, 21, 1998, pp. 28-28
Authors:
GUFFON N
SOUILLET G
MAIRE I
STRACZEK J
GUIBAUD P
Citation: N. Guffon et al., FOLLOW-UP OF 9 PATIENTS WITH HURLER-SYNDROME AFTER BONE-MARROW TRANSPLANTATION, The Journal of pediatrics, 133(1), 1998, pp. 119-125
Authors:
FROISSART R
MAIRE I
MILLAT G
CUDRY S
BIROT AM
BONNET V
BOUTON O
BOZON D
Citation: R. Froissart et al., IDENTIFICATION OF IDURONATE SULFATASE GENE ALTERATIONS IN 70 UNRELATED HUNTER PATIENTS, Clinical genetics, 53(5), 1998, pp. 362-368
Authors:
VEIGADACUNHA M
GERIN I
CHEN YT
DEBARSY T
DELONLAY P
DIONISIVICI C
FENSKE CD
LEE PJ
LEONARD JV
MAIRE I
MCCONKIEROSELL A
SCHWEITZER S
VIKKULA M
VANSCHAFTINGEN E
Citation: M. Veigadacunha et al., A GENE ON CHROMOSOME 11Q23 CODING FOR A PUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE IS MUTATED IN GLYCOGEN-STORAGE-DISEASE TYPES IB AND IC, American journal of human genetics, 63(4), 1998, pp. 976-983
Authors:
MILLAT G
FROISSART R
MAIRE I
BOZON D
Citation: G. Millat et al., CHARACTERIZATION OF IDURONATE SULFATASE MUTANTS AFFECTING N-GLYCOSYLATION SITES AND THE CYSTEINE-84 RESIDUE, Biochemical journal, 326, 1997, pp. 243-247
Authors:
BOUVIER R
MAIRE I
Citation: R. Bouvier et I. Maire, DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES WITH FETAL PRESENTATION, Annales de pathologie, 17(4), 1997, pp. 277-280
Authors:
FROISSART R
MAIRE I
BONNET V
LEVADE T
BOZON D
Citation: R. Froissart et al., GERMLINE AND SOMATIC MOSAICISM IN A FEMALE CARRIER OF HUNTER DISEASE, Journal of Medical Genetics, 34(2), 1997, pp. 137-140
Authors:
MILLAT G
FROISSART R
MAIRE I
BOZON D
Citation: G. Millat et al., IDS TRANSFER FROM OVEREXPRESSING CELLS TO IDS-DEFICIENT CELLS, Experimental cell research, 230(2), 1997, pp. 362-367
Authors:
MAICHELE AJ
BURWINKEL B
MAIRE I
SOVIK O
KILIMANN MW
Citation: Aj. Maichele et al., MUTATIONS IN THE TESTIS LIVER ISOFORM OF THE PHOSPHORYLASE-KINASE GAMMA-SUBUNIT (PHKG2) CAUSE AUTOSOMAL LIVER GLYCOGENOSIS IN THE GSD RAT AND IN HUMANS/, Nature genetics, 14(3), 1996, pp. 337-340
Authors:
BIROT AM
BOUTON O
FROISSART R
MAIRE I
BOZON D
Citation: Am. Birot et al., IDS GENE-PSEUDOGENE EXCHANGE RESPONSIBLE FOR AN INTRAGENIC DELETION IN A HUNTER PATIENT, Human mutation, 8(1), 1996, pp. 44-50
Authors:
BIROT AM
DELOBEL B
GRONNIER P
BONNET V
MAIRE I
BOZON D
Citation: Am. Birot et al., A 5-MEGABASE FAMILIAL DELETION REMOVES THE IDS AND FMR-1 GENES IN A MALE HUNTER PATIENT, Human mutation, 7(3), 1996, pp. 266-268
Authors:
TYLKISZYMANSKA A
MILLAT G
MAIRE I
CZARTORYSKA B
Citation: A. Tylkiszymanska et al., TYPE-I AND-III GAUCHER-DISEASE IN POLAND - INCIDENCE OF THE MOST COMMON MUTATIONS AND PHENOTYPIC MANIFESTATIONS, European journal of human genetics, 4(6), 1996, pp. 334-337
Authors:
BURWINKEL B
SHIN YS
BAKKER HD
DEUTSCH J
LOZANO MJ
MAIRE I
KILIMANN MW
Citation: B. Burwinkel et al., MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2), Human molecular genetics, 5(5), 1996, pp. 653-658
Authors:
UROCOSTE E
LELONGTISSIER MC
MAIRE I
CEUTERICK C
CHAUSSERAY F
DELISLE MB
Citation: E. Urocoste et al., TYPE-IV GLYCOGENOSIS - CONGENITAL VARIANT - REPORT OF A CASE, Annales de pathologie, 16(6), 1996, pp. 449-452
Authors:
CHEVALIERPORST F
BOZON D
BONARDORT AM
BRUNI N
MITHIEUX G
MATHIEU M
MAIRE I
Citation: F. Chevalierporst et al., MUTATION ANALYSIS IN 24 FRENCH PATIENTS WITH GLYCOGEN-STORAGE-DISEASETYPE 1A, Journal of Medical Genetics, 33(5), 1996, pp. 358-360
Authors:
PIRAUD M
FROISSART R
MANDON G
BERNARD A
MAIRE I
Citation: M. Piraud et al., AMNIOTIC-FLUID FOR SCREENING OF LYSOSOMAL STORAGE DISEASES PRESENTINGIN-UTERO (MAINLY AS NONIMMUNE HYDROPS-FETALIS), Clinica chimica acta, 248(2), 1996, pp. 143-155
Authors:
LESSINGER JM
FERARD G
GRAFMEYER D
LABBE D
MAIRE I
SCHIELE F
VASSAULT A
Citation: Jm. Lessinger et al., USEFULNESS OF REFERENCE MATERIALS IN CALIBRATION OF ENZYME-ACTIVITIES, European journal of clinical chemistry and clinical biochemistry, 33(11), 1995, pp. 859-864
Authors:
CUDRY S
BOUTON O
MAIRE I
BOZON D
Citation: S. Cudry et al., A DELETION POLYMORPHISM IN INTRON-4 OF THE IDUA GENE, Molecular and cellular probes, 9(2), 1995, pp. 143-143
Authors:
FROISSART R
MILLAT G
MATHIEU M
BOZON D
MAIRE I
Citation: R. Froissart et al., PROCESSING OF IDURONATE 2-SULFATASE IN HUMAN FIBROBLASTS, Biochemical journal, 309, 1995, pp. 425-430
FETAL ASCITES AND OLIGOHYDRAMNIOS - PRENATAL-DIAGNOSIS OF A SIALIC-ACID STORAGE DISEASE (INDEX CASE)
Authors:
POULAIN P
ODENT S
MAIRE I
MILON J
PROUDHON JF
JOUAN H
LEMAREC B
Citation: P. Poulain et al., FETAL ASCITES AND OLIGOHYDRAMNIOS - PRENATAL-DIAGNOSIS OF A SIALIC-ACID STORAGE DISEASE (INDEX CASE), Prenatal diagnosis, 15(9), 1995, pp. 864-867
Authors:
GUFFON N
SOUILLET G
MAIRE I
DORCHE C
MATHIEU M
GUIBAUD P
Citation: N. Guffon et al., JUVENILE METACHROMATIC LEUKODYSTROPHY - NEUROLOGICAL OUTCOME 2 YEARS AFTER BONE-MARROW TRANSPLANTATION, Journal of inherited metabolic disease, 18(2), 1995, pp. 159-161
Authors:
MOUSSON B
COLLOMBET JM
DUMOULIN R
CARRIER H
FLOCARD F
BOUZIDI M
GODINOT C
MAIRE I
MATHIEU M
QUARD S
Citation: B. Mousson et al., AN ABNORMAL EXERCISE TEST RESPONSE REVEALING A RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY, Acta neurologica Scandinavica, 91(6), 1995, pp. 488-493