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Children and adults with recessive X-linked ichthyosis have elevated levels of cholesterol sulfate, a substrate of the deficient enzyme microsomal sulfatase, in blood, erythrocyte membrane, and ichthyotic scale. We investigated cholesterol sulfate levels in patients with microsomal sulfatase deficiency before birth in amniotic fluid and in maternal plasma and erythrocytes, in cord blood (plasma and erythrocytes), and in plasma in the first month of life before and after onset of skin symptoms. Levels in amniotic fluid and cord blood were elevated. The plasma levels in the first month, before as well as after onset of skin symptoms, were within the range found in older patients with manifest skin symptoms.
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
June 1987,
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
July 1986,
Obstetrical & gynecological survey,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
March 1981,
Acta obstetrica et gynaecologica Japonica,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
May 1980,
The American journal of pathology,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
December 1979,
Clinical biochemistry,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
November 1998,
The Journal of investigative dermatology,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
February 1982,
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
March 1983,
European journal of pediatrics,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
September 1989,
Clinical chemistry,
A Marinkovic-Ilsen, and
B G Wolthers, and
G Jansen, and
H W de Bruijn, and
C van der Loos
January 1979,
Journal de gynecologie, obstetrique et biologie de la reproduction,
