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

IDURONATE SULFATASE IN AMNIOTIC FLUID: AN AID IN THE PRENATAL DIAGNOSIS OF THE HUNTER SYNDROME.LIEBAERS I; DI NATALE P; NEUFELD EF et al.1977; J. PEDIATR.; U.S.A.; DA. 1977; VOL. 90; NO 3; PP. 423-425; BIBL. 10 REF.Article

BIOCHEMICAL CHARACTERIZATION OF NEONATAL MULTIPLE SULFATASE DEFICIENT (MSD) DISORDER CULTURED SKIN FIBROBLASTSETO Y; TOKORO T; LIEBAERS I et al.1982; BIOCHEM. BIOPHYS. RES. COMMUN.; ISSN 0006-291X; USA; DA. 1982; VOL. 106; NO 2; PP. 429-434; BIBL. 12 REF.Article

PRENATAL MUCOPOLYSACCHARIDORIS II (HUNTER): A PATHOGENETIC STUDYWIESMANN UN; SPYCHER MA; MEIER C et al.1980; PEDIATR. RES.; USA; DA. 1980; VOL. 14; NO 5; PP. 749-756; BIBL. 31 REF.Article

X-LINKED HUNTER SYNDROME: THE HETEROZYGOUS PHENOTYPE IN CELL CULTURE.MIGEON BR; SPRENKLE JA; LIEBAERS I et al.1977; AMER. J. HUM. GENET.; U.S.A.; DA. 1977; VOL. 29; NO 5; PP. 448-454; BIBL. 17 REF.Article

MULTIPLE SULPHATASE DEFICIENCY WITH EARLY ONSETVAMOS E; LIEBAERS I; BOUSARD N et al.1981; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1981; VOL. 4; NO 2; PP. 103-104; BIBL. 7 REF.Article

MUCOPOLYSACCHARIDOSIS II (HUNTER DISEASE) WITH CORNEAL OPACITIES: REPORT ON TWO PATIENTS AT THE EXTREMES OF A WIDE CLINICAL SPECTRUM.SPRANGER J; CANTZ M; GEHLER J et al.1978; EUROP. J. PEDIATR.; DEU; DA. 1978; VOL. 129; NO 1; PP. 11-16; BIBL. 17 REF.Article

A mutation (IVS8+0.6kbdeITC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase geneVERVOORT, R; GITZELMANN, R; LISSENS, W et al.Human genetics. 1998, Vol 103, Num 6, pp 686-693, issn 0340-6717Article

Polyclonal antibodies against iduronate 2-sulphate sulphatase from human urineLISSENS, W; ZENATI, A; LIEBAERS, I et al.Biochimica et biophysica acta. 1984, Vol 801, Num 3, pp 365-371, issn 0006-3002Article

Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of haematopoietic stem cells to a siblingPENNINGS, G; SCHOTS, R; LIEBAERS, I et al.Human reproduction (Oxford. Print). 2002, Vol 17, Num 3, pp 534-538, issn 0268-1161Article

PRENATAL MONITORING FOR THE HUNTER SYNDROME: THE HETEROZYGOUS FEMALE FETUSKLEIJER WJ; MOOY PD; LIEBAERS I et al.1979; CLIN. GENET.; DNK; DA. 1979; VOL. 101; NO 5; PP. 113-117; BIBL. 17 REF.Article

ANTENATAL DIAGNOSIS OF CONGENITAL DISEASES THROUGH CULTURED AMNIOTIC CELLS: RESULTS OF 149 AMNIOCENTESES.VAMOS HURWITZ E; PETIT P; LIEBAERS I et al.1976; ACTA PAEDIATR. BELG.; BELG.; DA. 1976; VOL. 29; NO 2; PP. 91-98; BIBL. 30 REF.Article

Epigenetic risks related to assisted reproductive technologies: Risk analysis and epigenetic inheritanceDE RYCKE, M; LIEBAERS, I; VAN STEIRTEGHEM, A et al.Human reproduction (Oxford. Print). 2002, Vol 17, Num 10, pp 2487-2494, issn 0268-1161, 8 p.Article

THE HUNTER SYNDROME IN FEMALES: IS THERE AN AUTOSOMAL RECESSIVE FORM OF IDURONATE SULFATASE DEFICIENCY.NEUFELD EF; LIEBAERS I; EPSTEIN CJ et al.1977; AMER. J. HUM GENET.; U.S.A.; DA. 1977; VOL. 29; NO 5; PP. 455-461; BIBL. 16 REF.Article

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1α subunitDE MEIRLEIR, L; LISSENS, W; VAMOS, E et al.Human genetics. 1992, Vol 88, Num 6, pp 649-652, issn 0340-6717Article

Infertilités masculines d'origine génétique = Genetic male infertilityVAN STEIRTEGHEM, A; LIEBAERS, I; CAMUS, M et al.La Revue du praticien (Paris). 1999, Vol 49, Num 12, pp 1309-1313, issn 0035-2640Article

Importance of sequence analysis in NARP syndromeSENECA, S; DE MEIRLEIR, L; LIEBAERS, I et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 1, issn 0141-8955, p. 97Article

Pyruvate dehydrogenase deficiency due to a mutation of the E1 α subunitDE MEIRLEIR, L. J; LISSENS, W; VAMOS, E et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 3, pp 301-304, issn 0141-8955Article

Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reductionDE CATTE, L; CAMUS, M; BONDUELLE, M et al.American journal of perinatology. 1998, Vol 15, Num 5, pp 339-343, issn 0735-1631Article

Molecular analysis in 23 Hunter disease familiesLISSENS, W; SENECA, S; LIEBAERS, I et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 453-456, issn 0141-8955Conference Paper

Neonatal hapatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ motherVANDENPLAS, Y; FRANCKX, J; LIEBAERS, I et al.European journal of pediatrics. 1985, Vol 144, Num 4, pp 391-394, issn 0340-6199Article

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF geneBONDUELLE, M; LISSENS, W; LIEBAERS, I et al.Lancet (British edition). 1991, Vol 338, Num 8760, issn 0140-6736, p. 189Article

NEONATAL MULTIPLE SULPHATASE DEFICIENCY DISORDER: BIOCHEMICAL CHARACTERIZATIONETO Y; TOKORO T; KUREHA Y et al.1982; JOURNAL OF INHERITED METABOLIC DISEASE; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; NO 4; PP. 235-236; BIBL. 6 REF.Article

Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the diseaseSPITS, C; SENECA, S; HILVEN, P et al.Journal of medical genetics. 2010, Vol 47, Num 10, pp 700-703, issn 0022-2593, 4 p.Article

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