Výsledky vyhledávání - "L A, Metherell"

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis

Autor: R, Prasad, L A, Metherell, A J, Clark, H L, Storr

Publikováno v: Endocrinology

Triple A syndrome is a rare, autosomal recessive cause of adrenal failure. Additional features include alacrima, achalasia of the esophageal cardia, and progressive neurodegenerative disease. The AAAS gene product is the nuclear pore complex protein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13fc72cbebd8ea6b31038276713f96c3
https://pubmed.ncbi.nlm.nih.gov/23825130

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Tall stature in familial glucocorticoid deficiency

Autor: L L, Elias, A, Huebner, L A, Metherell, A, Canas, G L, Warne, M L, Bitti, S, Cianfarani, P E, Clayton, M O, Savage, A J, Clark

Publikováno v: Clinical endocrinology. 53(4)

Familial glucocorticoid deficiency (FGD) has frequently been associated with tall stature in affected individuals. The clinical, biochemical and genetic features of five such patients were studied with the aim of clarifying the underlying mechanisms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::60f4ee198bea02ee77d8be1cde5b3667
https://pubmed.ncbi.nlm.nih.gov/11012566

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Akademický článek

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.

Autor: L A Metherell, M O Savage, M Dattani, J Walker, P E Clayton, I S Farooqi, A J L Clark

Publikováno v: European Journal of Endocrinology; Oct2004, Vol. 151 Issue 4, p0463-0465, 3p

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