| Autor: |
Krzysztof Jeziorny, Ewa Zmyslowska-Polakowska, Krystyna Wyka, Aleksandra Pyziak-Skupień, Maciej Borowiec, Agnieszka Szadkowska, Agnieszka Zmysłowska |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Bone Reports, Vol 17, Iss , Pp 101600- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2352-1872 |
| DOI: |
10.1016/j.bonr.2022.101600 |
| Popis: |
Objectives: Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numerous clinical manifestations are common including obesity, retinal degeneration, insulin resistance, type 2 diabetes and many others. The aim of the study was to evaluate bone metabolism abnormalities and their relation to metabolic disorders based on bone turnover markers and presence of mandibular atrophy in patients with ALMS and BBS syndromes. Material and methods: In 18 patients (11 with ALMS and 7 with BBS aged 5–29) and in 42 age-matched (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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