Literature DB >> 6489382

Steroid sulphatase deficiency and hypogonadism.

G Andria, A Ballabio, G Parenti, S DiMaio, A Piccirillo.   

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Year:  1984        PMID： 6489382     DOI： 10.1007/bf00540260

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia.

Authors:  J C Perrin; J Y Idemoto; J F Sotos; W F Maurer; A G Steinberg
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  Determination of arylsulfatase C in hair follicles.

Authors:  J C Meyer; H P Grundmann; U W Schnyder
Journal:  Arch Dermatol Res       Date:  1979-08       Impact factor: 3.017

3.  Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'.

Authors:  G Andria; A Ballabio; G Parenti; S Di Maio; A Piccirillo
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Authors:  M Münke; K Kruse; M Goos; H H Ropers; M Tolksdorf
Journal:  Eur J Pediatr       Date:  1983-10       Impact factor: 3.183

5.  Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

Authors:  H Traupe; R Happle
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

6.  Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

Authors:  E H Epstein; M E Leventhal
Journal:  J Clin Invest       Date:  1981-05       Impact factor: 14.808
  6 in total
  5 in total

Review 1.  The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Authors:  Cecilia Martin; Ravikumar Balasubramanian; Andrew A Dwyer; Margaret G Au; Yisrael Sidis; Ursula B Kaiser; Stephanie B Seminara; Nelly Pitteloud; Qun-Yong Zhou; William F Crowley
Journal:  Endocr Rev       Date:  2010-10-29       Impact factor: 19.871

2.  X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

Authors:  A Ballabio; G Parenti; P Tippett; C Mondello; S Di Maio; A Tenore; G Andria
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

3.  Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent.

Authors:  G Lykkesfeldt; J Müller; N E Skakkebaek; E Bruun; A E Lykkesfeldt
Journal:  Eur J Pediatr       Date:  1985-09       Impact factor: 3.183

4.  Moebius syndrome in association with hypogonadotropic hypogonadism.

Authors:  L E Brackett; L M Demers; A C Mamourian; C Ellenberger; R J Santen
Journal:  J Endocrinol Invest       Date:  1991 Jul-Aug       Impact factor: 4.256

5.  Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Authors:  A Ballabio; G Sebastio; R Carrozzo; G Parenti; A Piccirillo; M G Persico; G Andria
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132
  5 in total

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