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Prenatal diagnosis of morquio's disease type a ( n ‐acetylgalactosamine 6‐sulphate sulphatase deficiency)
Author(s) -
Von Figura Kurt,
Van De Kamp J. J.,
Niermeijer Martinus F.
Publication year - 1982
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970020111
Subject(s) - prenatal diagnosis , fetus , pregnancy , amniotic fluid , medicine , endocrinology , obstetrics , biology , genetics
Prenatal monitoring of three pregnancies at risk of Morquio's disease type A by determination of N ‐acetylgalactosamine 6‐sulphate sulphatase activity in cultured amniotic cells is reported. In one pregnancy prenatal diagnosis of one affected fetus was made. Enzyme determinations in tissues of the aborted fetus confirmed the prenatal diagnosis.