scholarly journals High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency

2014 ◽  
Vol 56 (2) ◽  
pp. 403-412 ◽  
Author(s):  
Alberto Sánchez-Guijo ◽  
Vinzenz Oji ◽  
Michaela F. Hartmann ◽  
Hans-Christian Schuppe ◽  
Heiko Traupe ◽  
...  
Keyword(s):  
Steroid Sulfatase ◽  
Steroid Sulfatase Deficiency

Very Low Maternal Serum Unconjugated Estriol and Prenatal Diagnosis of Steroid Sulfatase Deficiency

1995 ◽  
Vol 10 (2) ◽  
pp. 76-80 ◽  
Author(s):  
M. David ◽  
N. Israel ◽  
R. Merksamer ◽  
N. Bar-Nizan ◽  
Z. Borochowitz ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Serum ◽  
Steroid Sulfatase ◽  
Steroid Sulfatase Deficiency ◽  
Unconjugated Estriol

Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency

2016 ◽  
Vol 437 ◽  
pp. 142-153 ◽  
Author(s):  
Alberto Sánchez-Guijo ◽  
Jens Neunzig ◽  
Adrian Gerber ◽  
Vinzenz Oji ◽  
Michaela F. Hartmann ◽  
...  
Keyword(s):  
Steroid Sulfatase ◽  
Steroid Sulfatase Deficiency ◽  
Steroid Pathway

Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase

1987 ◽  
Vol 144 (2) ◽  
pp. 1010-1017 ◽  
Author(s):  
Jon T. Conary ◽  
Gerhard Lorkowski ◽  
Bernhard Schmidt ◽  
Regina Pohlmann ◽  
Gerhard Nagel ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Steroid Sulfatase ◽  
Steroid Sulfatase Deficiency

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

2009 ◽  
Vol 29 (10) ◽  
pp. 966-974 ◽  
Author(s):  
Sylvie Langlois ◽  
Linlea Armstrong ◽  
Kim Gall ◽  
Gurdip Hulait ◽  
Janet Livingston ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Deletion Syndrome ◽  
Steroid Sulfatase ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome ◽  
Steroid Sulfatase Deficiency ◽  
Low Serum

More on X-Linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia

1988 ◽  
Vol 23 (1) ◽  
pp. 103-103
Author(s):  
Generoso Andria ◽  
Andrea Ballabio ◽  
Giancarlo Parenti
Keyword(s):  
Steroid Sulfatase ◽  
Steroid Sulfatase Deficiency

scholarly journals Steroid sulfatase contributes to systemic androgen activation in pre-pubertal boys: lessons from steroid sulfatase deficiency

2014 ◽  
Author(s):  
Jan Idkowiak ◽  
Angela E Taylor ◽  
Donna M O'Neil ◽  
Sandra Subtil ◽  
Raymon Vijzelaar ◽  
...  
Keyword(s):  
Steroid Sulfatase ◽  
Pubertal Boys ◽  
Steroid Sulfatase Deficiency

27-hydroxycholesterol-3-sulfate: A new biomarker for human steroid sulfatase deficiency

2015 ◽  
Vol 122 (03) ◽  
Author(s):  
A Sánchez-Guijo ◽  
V Oji ◽  
MF Hartmann ◽  
HC Schuppe ◽  
H Traupe ◽  
...  
Keyword(s):  
Steroid Sulfatase ◽  
Steroid Sulfatase Deficiency
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