Zobrazeno 1 - 10
of 425
pro vyhledávání: '"Asfotase alfa"'
Autor:
Jorge Armando Rojas Martínez, Ana María Zarante Bahamón, Luz Victoria Salazar, Andrés Felipe Morales, María Fernanda Higuera Cristancho, Juliana Villanueva Congote, Ignacio Zarante Montoya, Lina María Gómez Espitia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is a progressive metabolic, genetic disease with wide clinical heterogeneity, ranging from perinatal lethality to mild or moderate localized symptoms. This study aims to anal
Externí odkaz:
https://doaj.org/article/b4dc8e7be1f646d4985979912eee1aac
Autor:
Nancy W. Shen, BA, Lauren G. Yi, MD, Wilson Omesiete, MD, Christina M. Peroutka, MD, Shyam S. Raghavan, MD, Kenneth E. Greer, MD
Publikováno v:
JAAD Case Reports, Vol 42, Iss , Pp 23-25 (2023)
Externí odkaz:
https://doaj.org/article/bf5214e36c324c848f58db74f3474e73
Autor:
N Jaswanthi, R Sindhu, P Nimmy, D Prabu, M RajMohan, V V Bharathwaj, Dinesh Dhamodhar, S Sathiyapriya
Publikováno v:
Journal of Pharmacy and Bioallied Sciences, Vol 15, Iss 5, Pp 101-104 (2023)
Hypophosphatasia (HPP) is a life-threatening disease that occurs due to the mutation of the TNSALP (Tissue nonspecific isoenzyme of alkaline phosphatase) encoding gene. There is no approved treatment for Hypophosphatasia. Therefore, the only effectiv
Externí odkaz:
https://doaj.org/article/9c807e2b25ae4271bc4947bdef1e3b25
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
Akademický článek
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Akademický článek
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Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 434-445 (2022)
Abstract Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms. Dental manifestations including premature tooth
Externí odkaz:
https://doaj.org/article/e0be3073fc154120a7553e9e480c7a25
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 67, Iss 5 (2023)
ABSTRACT Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules. Decreased alkaline phosphatase activity leads to the accumulat
Externí odkaz:
https://doaj.org/article/d7cdc070ff76422d9279b82948acdc40
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 2, Pp 192-196 (2022)
Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening pe
Externí odkaz:
https://doaj.org/article/faa57fa9ad994883aaf9de2443523dfc
Autor:
Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal form to the adult
Externí odkaz:
https://doaj.org/article/2b65bd7638f440329db877967df91b85