Literature DB >> 8777917

Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

M Zachmann1.   

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Year:  1996        PMID: 8777917     DOI: 10.1007/bf02002710

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


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  16 in total

1.  Partial 3 -hydroxysteroid dehydrogenase (3 -HSD) deficiency in a family with congenital adrenal hyperplasia: evidence for increasing 3 -HSD activity with age.

Authors:  F M Kenny; J W Reynolds; O C Green
Journal:  Pediatrics       Date:  1971-11       Impact factor: 7.124

2.  Non-classical 3 beta-hydroxysteroid dehydrogenase deficiency in children in central Iowa. Difficulties in differentiating this entity from cases of precocious adrenarche without an adrenal enzyme defect.

Authors:  D M Cathro; S G Golombek
Journal:  J Pediatr Endocrinol       Date:  1994 Jan-Mar

3.  Pubertal presentation of congenital delta 5-3 beta-hydroxysteroid dehydrogenase deficiency.

Authors:  R L Rosenfield; B H Rich; J I Wolfsdorf; F Cassorla; J S Parks; A M Bongiovanni; C H Wu; C H Shackleton
Journal:  J Clin Endocrinol Metab       Date:  1980-08       Impact factor: 5.958

4.  3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.

Authors:  M Zachmann; M G Forest; E De Peretti
Journal:  Horm Res       Date:  1979

5.  Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Authors:  J Simard; E Rhéaume; R Sanchez; N Laflamme; Y de Launoit; V Luu-The; A P van Seters; R D Gordon; M Bettendorf; U Heinrich
Journal:  Mol Endocrinol       Date:  1993-05

6.  Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency in children with accelerated growth, premature pubarche and/or hirsutism.

Authors:  Y Nishi; T Tezuka
Journal:  Eur J Pediatr       Date:  1992-01       Impact factor: 3.183

7.  Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

Authors:  R Sanchez; F Mébarki; E Rhéaume; N Laflamme; M G Forest; F Bey-Omard; M David; Y Morel; F Labrie; J Simard
Journal:  Hum Mol Genet       Date:  1994-09       Impact factor: 6.150

8.  Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.

Authors:  F Mébarki; R Sanchez; E Rhéaume; N Laflamme; J Simard; M G Forest; F Bey-Omar; M David; F Labrie; Y Morel
Journal:  J Clin Endocrinol Metab       Date:  1995-07       Impact factor: 5.958

9.  Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.

Authors:  E Rhéaume; J Simard; Y Morel; F Mebarki; M Zachmann; M G Forest; M I New; F Labrie
Journal:  Nat Genet       Date:  1992-07       Impact factor: 38.330

10.  Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity.

Authors:  Y Lachance; V Luu-The; H Verreault; M Dumont; E Rhéaume; G Leblanc; F Labrie
Journal:  DNA Cell Biol       Date:  1991-12       Impact factor: 3.311

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