Zobrazeno 1 - 10
of 417
pro vyhledávání: '"AAAS"'
Publikováno v:
Medical Journal of Dr. D.Y. Patil Vidyapeeth, Vol 16, Iss 3, Pp 452-455 (2023)
Introduction: Allgrove or Triple A syndrome is a rare familial multisystem disorder with autosomal recessive inheritance. Usual features include varied combination of alacrima, achalasia cardia, and adrenocorticotrophic hormone (ACTH) resistant adren
Externí odkaz:
https://doaj.org/article/a8e42a8d07d94c3e90ea36886595f3f6
Autor:
Jiri Dolina, Lumir Kunovsky, Radek Kroupa, Karel Stary, Petr Jabandziev, Tereza Nesporova, Karel Maca, Tomas Andrasina, Filip Marek, Zdenek Kala, Jitka Vaculova, David Said, Martina Zapletalova, Jan Lochman, Hana Palova Noskova, Ondrej Slaby, Lydie Izakovicova Holla, Petra Borilova Linhartova
Publikováno v:
Biomedical Papers, Vol 166, Iss 2, Pp 228-235 (2022)
Background. Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characteri
Externí odkaz:
https://doaj.org/article/83a2668532f247c28216fb5c4f930c85
Akademický článek
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Autor:
Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann, Andreas Roos
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
Abstract Background The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding of the genesis of the
Externí odkaz:
https://doaj.org/article/c0bba7d671bf421f922be0080e320a0a
Autor:
Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
ObjectiveExperimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic ne
Externí odkaz:
https://doaj.org/article/46beb4bd2b034a6c9293f8c92e894141
Autor:
Verena Habermaass, Eleonora Gori, Francesca Abramo, Francesco Bartoli, Alessio Pierini, Chiara Mariti, Ilaria Lippi, Veronica Marchetti
Publikováno v:
Veterinary Sciences, Vol 9, Iss 9, p 455 (2022)
In humans, chronic liver disease may cause alterations in amino acids (AAs) metabolism, with serum branched-chain AAs (BCAAs) decreasing and aromatic AAs (AAAs) increasing. A reduced Fischer ratio (BCAAs/AAAs) has been found to be associated with hep
Externí odkaz:
https://doaj.org/article/0b5ca187b8754c69b75ca0363467e801
Akademický článek
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Publikováno v:
Biomedicine & Pharmacotherapy, Vol 131, Iss , Pp 110669- (2020)
Objective: Berberine (BBR), which is extracted from traditional Chinese herb, is abundant in Coptis chinensis and Berberis vulgaris, with a treatment on type 2 diabetes mellitus (T2DM). However, its oral bioavailability is poor. Therefore, the abilit
Externí odkaz:
https://doaj.org/article/a6eef28311844988a16ad9da63507012
Akademický článek
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Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)
Abstract Background Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A
Externí odkaz:
https://doaj.org/article/cde42ccdc90a47fe9c10ab4dc291fa1c