Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency

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

Molecular and Cellular Endocrinology ◽

10.1016/j.mce.2016.08.019 ◽

2016 ◽

Vol 437 ◽

pp. 142-153 ◽

Cited By ~ 23

Author(s):

Alberto Sánchez-Guijo ◽

Jens Neunzig ◽

Adrian Gerber ◽

Vinzenz Oji ◽

Michaela F. Hartmann ◽

...

Keyword(s):

Steroid Sulfatase ◽

Steroid Pathway

Steroid sulfatase deficiency in Japanese patients: Characterization of X-linked ichthyosis by using polymerase chain reaction

The Japanese Journal of Human Genetics ◽

10.1007/bf01907989 ◽

1993 ◽

Vol 38 (4) ◽

pp. 421-428 ◽

Cited By ~ 7

Author(s):

Teruo Sugawara ◽

Koichi Honke ◽

Seiichirou Fujimoto ◽

Akira Makita

Keyword(s):

Polymerase Chain Reaction ◽

Japanese Patients ◽

Steroid Sulfatase ◽

Chain Reaction ◽

Polymerase Chain ◽

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

Fetal Diagnosis and Therapy ◽

10.1159/000264207 ◽

1995 ◽

Vol 10 (2) ◽

pp. 76-80 ◽

Cited By ~ 15

Author(s):

M. David ◽

N. Israel ◽

R. Merksamer ◽

N. Bar-Nizan ◽

Z. Borochowitz ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Maternal Serum ◽

Steroid Sulfatase ◽

Unconjugated Estriol

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits

Journal of Medical Genetics ◽

10.1136/jmg.2008.057729 ◽

2008 ◽

Vol 45 (8) ◽

pp. 519-524 ◽

Cited By ~ 98

Author(s):

L Kent ◽

J Emerton ◽

V Bhadravathi ◽

E Weisblatt ◽

G Pasco ◽

...

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Attention Deficit ◽

Social Communication ◽

Steroid Sulfatase ◽

Hyperactivity Disorder ◽

Communication Deficits ◽

Increased Risk ◽

UNCONJUGATED ESTRIOL AS AN INDICATION FOR PRENATAL DIAGNOSIS OF STEROID SULFATASE DEFICIENCY BY IN SITU HYBRIDIZATION

Obstetrics and Gynecology ◽

10.1097/00006250-199810001-00021 ◽

1998 ◽

Vol 92 (Supplement) ◽

pp. 687-689

Author(s):

Mohamed N. Ahmed ◽

Allan Killam ◽

Kathy H. Thompson ◽

Mazin B. Qumsiyeh

Keyword(s):

In Situ Hybridization ◽

Prenatal Diagnosis ◽

Steroid Sulfatase ◽

Unconjugated Estriol

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

Biochemical and Biophysical Research Communications ◽

10.1016/s0006-291x(87)80064-5 ◽

1987 ◽

Vol 144 (2) ◽

pp. 1010-1017 ◽

Cited By ~ 44

Author(s):

Jon T. Conary ◽

Gerhard Lorkowski ◽

Bernhard Schmidt ◽

Regina Pohlmann ◽

Gerhard Nagel ◽

...

Keyword(s):

Genetic Heterogeneity ◽

Steroid Sulfatase ◽

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

Prenatal Diagnosis ◽

10.1002/pd.2326 ◽

2009 ◽

Vol 29 (10) ◽

pp. 966-974 ◽

Cited By ~ 11

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 ◽

Low Serum

Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency

Graefe s Archive for Clinical and Experimental Ophthalmology ◽

10.1007/bf02181184 ◽

1988 ◽

Vol 226 (3) ◽

pp. 216-223 ◽

Cited By ~ 12

Author(s):

K. P. Steuhl ◽

I. Anton-Lamprecht ◽

M. -L. Arnold ◽

H. -J. Thiel

Keyword(s):

Epidermolysis Bullosa ◽

Steroid Sulfatase ◽

Epidermolysis Bullosa Simplex ◽

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

Annals of Neurology ◽

10.1002/ana.410230124 ◽

1988 ◽

Vol 23 (1) ◽

pp. 103-103

Author(s):

Generoso Andria ◽

Andrea Ballabio ◽

Giancarlo Parenti

Keyword(s):

Steroid Sulfatase ◽

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

Endocrine Abstracts ◽

10.1530/endoabs.34.p357 ◽

2014 ◽

Author(s):

Jan Idkowiak ◽

Angela E Taylor ◽

Donna M O'Neil ◽

Sandra Subtil ◽

Raymon Vijzelaar ◽

...

Keyword(s):

Steroid Sulfatase ◽

Pubertal Boys ◽