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pro vyhledávání: '"Bethany Gottesman"'
Autor:
Michael Gottschalk, Bethany Gottesman
Publikováno v:
Journal of the Endocrine Society
Background: In the IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome, Type 1 diabetes mellitus is the most common endocrine complication and usually occurs with a variable presentation from immediately at birth to within
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfb4747f43d3037223f03f16eb995c0
https://doi.org/10.1210/jendso/bvaa046.784
https://doi.org/10.1210/jendso/bvaa046.784
Autor:
Bethany Gottesman, Maja Marinkovic
Publikováno v:
Journal of the Endocrine Society
Background: Aromatase deficiency (AD) is a rare autosomal recessive genetic disorder caused by loss of function mutation in CYP19A1 leading to normal androgen but low estrogen levels. As a result men with this condition have increased linear bone gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebfb52612cce7fa2f86d7e8762e7b6d0
http://europepmc.org/articles/PMC6552174
http://europepmc.org/articles/PMC6552174
Publikováno v:
Hormone Research in Paediatrics; 2020 Supplement, Vol. 93 Issue Suppl 1, p1-185, 185p, 5 Color Photographs, 6 Black and White Photographs, 2 Diagrams, 53 Charts, 31 Graphs