Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report.

Autor: Tokuchi, Shusuke¹ (AUTHOR), Kawano, Toshihiro¹ (AUTHOR), Ntege, Edward Hosea^1,2 (AUTHOR), Murahashi, Makoto¹ (AUTHOR), Ide, Kentaro¹ (AUTHOR), Maruyama, Nobuyuki¹ (AUTHOR), Suzuki, Risako¹ (AUTHOR), Takai-Nabeta, Mirei¹ (AUTHOR), Nabeta, Tsuyoshi¹ (AUTHOR), Tanaka, Hideo¹ (AUTHOR), Shimizu, Yusuke² (AUTHOR), Nakamura, Hiroyuki¹ (AUTHOR) hnak@me.com

Publikováno v: Journal of Medical Case Reports. 12/20/2024, Vol. 18 Issue 1, p1-6. 6p.

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

Autor: Spentchian, M, Merrien, Y, Herasse, M, Dobbie, Z, Glaser, D, Holder, SE, Ivarsson, SA, Kostiner, D, Mansour, S, Norman, A, Roth, J, Stipoljev, Feodora, Taillemite, JL, van der Smagt, JJ, Serre, JL, Simon-Bouy, B, Taillandier, A, Mornet, E.

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::2cbd3607303a34c9e035c7493fb9d4cb
https://doi.org/10.1002/humu.9159

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

Autor: Amri Y; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia. amri.yessine@yahoo.com.; Higher Institute of Applied Studies in Humanity Le Kef, Department of Educational Sciences, University of Jendouba, Kef, Tunisia. amri.yessine@yahoo.com., Dabboubi R; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia., Khemiri M; Pediatric Service, Bechir Hamza Children's Hospital, Tunis, Tunisia., Jebabli E; Pediatric Service, Bechir Hamza Children's Hospital, Tunis, Tunisia., Hadj Fredj S; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia., Ahmed SB; Pediatric Service, Bechir Hamza Children's Hospital, Tunis, Tunisia., Jouini Y; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia., Ouali F; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia., Messaoud T; Biochemistry Laboratory (LR00SP03), Bechir Hamza Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Jun 23; Vol. 299 (1), pp. 64. Date of Electronic Publication: 2024 Jun 23.

Genotypes and Phenotypes of Arab Patients with Familial Mediterranean Fever in North Jordan.

Autor: Alawneh, Khaldoon M.¹, Jaradat, Saied A.², Obeidat, Marya³, Kewan, Tariq⁴, Zahran, Deeb⁵, Alawneh, Diala⁶, Sweiss, Nadera J.⁶

Publikováno v: Bangladesh Journal of Medical Science. Jan2024, Vol. 23 Issue 1, p54-62. 9p.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.