Literature DB >> 198655

Absent aldosterone response to ACTH in familial glucocorticoid deficiency.

R F Spark, J R Etzkorn.   

Abstract

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Year:  1977        PMID： 198655     DOI： 10.1056/NEJM197710272971707

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  6 in total

1.  Selective ACTH insensitivity associated with autonomic nervous system disorders and sensory polyneuropathy.

Authors:  M Dumić; A Radica; A Jusić; N Stefanović; Z Murko
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

2.  Familial X-linked adrenocortical hypoplasia association with androgenic precocity.

Authors:  D F Wittenberg
Journal:  Arch Dis Child       Date:  1981-08       Impact factor: 3.791

3.  Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity.

Authors:  C Heinrichs; C Tsigos; J Deschepper; R Drews; R Collu; C Dugardeyn; P Goyens; G E Ghanem; D Bosson; G P Chrousos
Journal:  Eur J Pediatr       Date:  1995-03       Impact factor: 3.183

4.  Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.

Authors:  C Tsigos; K Arai; W Hung; G P Chrousos
Journal:  J Clin Invest       Date:  1993-11       Impact factor: 14.808

5.  Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Authors:  Lin Lin; Peter C Hindmarsh; Louise A Metherell; Mahmoud Alzyoud; Maryam Al-Ali; Caroline E Brain; Adrian J L Clark; Mehul T Dattani; John C Achermann
Journal:  Clin Endocrinol (Oxf)       Date:  2007-02       Impact factor: 3.478

6.  Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.

Authors:  Yasuko Fujisawa; Eleonora Napoli; Sarah Wong; Gyu Song; Rie Yamaguchi; Toshiharu Matsui; Keisuke Nagasaki; Tsutomu Ogata; Cecilia Giulivi
Journal:  BBA Clin       Date:  2015-06-01
  6 in total

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