Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Antara Datta"'
Publikováno v:
AACE Clinical Case Reports, Vol 10, Iss 2, Pp 38-40 (2024)
Background/Objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP. Case Report: A 36-year-old woman prese
Externí odkaz:
https://doaj.org/article/66d450ed4b754e7e88c9567314e0d0fb
Publikováno v:
AACE Clinical Case Reports, Vol 9, Iss 6, Pp 209-212 (2023)
Background/Objective: Osteogenesis imperfecta (OI) is a genetic disorder that affects type 1 collagen synthesis causing increased bone fragility, low bone mass, and skeletal deformity. Bisphosphonates are recommended for treatment of OI patients; how
Externí odkaz:
https://doaj.org/article/57fb4b24a2d94c65b119f3a0d7b4fae8
Autor:
Antara Dattagupta, BS, Shelley Williamson, MD, Lamees I. El Nihum, MD, MEng, Steven Petak, MD, JD
Publikováno v:
AACE Clinical Case Reports, Vol 8, Iss 6, Pp 255-258 (2022)
Background/Objective: Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare subtype of the heritable connective tissue disorder characterized in the 2017 Ehlers-Danlos syndrome (EDS) nosology. Three biallelic mutations, B4GALT7, B3GALT6, and SL
Externí odkaz:
https://doaj.org/article/fb14b89aad0745ca8ae5e644537db42e