Literature DB >> 12793313

Triple A syndrome--diagnostic and management issues.

Sunita Bijarnia1, I C Verma.   

Abstract

The authors present a family with three children affected with triple A syndrome--one had died, one was saved by diagnosis and timely therapy, and one was born after the diagnosis in the second child. The gene for the syndrome has been cloned and genetic counseling should be offered to these families.

Entities:  

Mesh：

Year:  2003        PMID： 12793313     DOI： 10.1007/bf02723592

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Authors:  K Handschug; S Sperling; S J Yoon; S Hennig; A J Clark; A Huebner
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

2.  Triple-A syndrome.

Authors:  R Premalatha; P Gayathri
Journal:  Indian Pediatr       Date:  1998-11       Impact factor: 1.411

3.  Molecular insights into inherited ACTH resistance syndromes.

Authors:  A J Clark; A Weber
Journal:  Trends Endocrinol Metab       Date:  1994-07       Impact factor: 12.015

4.  Triple A syndrome--clinical aspects and molecular genetics.

Authors:  A Huebner; S J Yoon; F Ozkinay; C Hilscher; H Lee; A J Clark; K Handschug
Journal:  Endocr Res       Date:  2000-11       Impact factor: 1.720

5.  Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

Authors:  Henry Houlden; Stephen Smith; Mamede De Carvalho; Julian Blake; Christopher Mathias; Nicholas W Wood; Mary M Reilly
Journal:  Brain       Date:  2002-12       Impact factor: 13.501

6.  Mutant WD-repeat protein in triple-A syndrome.

Authors:  A Tullio-Pelet; R Salomon; S Hadj-Rabia; C Mugnier; M H de Laet; B Chaouachi; F Bakiri; P Brottier; L Cattolico; C Penet; M Bégeot; D Naville; M Nicolino; J L Chaussain; J Weissenbach; A Munnich; S Lyonnet
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

7.  Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

Authors:  F Sandrini; C Farmakidis; L S Kirschner; S M Wu; A Tullio-Pelet; S Lyonnet; D L Metzger; C J Bourdony; D Tiosano; W Y Chan; C A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2001-11       Impact factor: 5.958

8.  New insights into the molecular basis of the triple A syndrome.

Authors:  A Huebner; A M Kaindl; R Braun; K Handschug
Journal:  Endocr Res       Date:  2002-11       Impact factor: 1.720

9.  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.

Authors:  J Allgrove; G S Clayden; D B Grant; J C Macaulay
Journal:  Lancet       Date:  1978-06-17       Impact factor: 79.321
  9 in total

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