Results 251 to 260 of about 9,342 (275)

Hypophosphatasia

Clinics in Rheumatic Diseases, 1986
D P, Brenton, S, Krywawych
openaire   +2 more sources

Hypophosphatasia

British Dental Journal, 1983
openaire   +2 more sources

Hypophosphatasia: presentation and response to asfotase alfa

Osteoporosis International, 2023
F. Alsarraf, D. Ali, K. Almonaei, H. Al-alwani, A.A. Khan, M. L. Brandi   +5 more
semanticscholar   +1 more source

The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review

European Archives of Paediatric Dentistry, 2023
G. Smart, E. Jensen, B. Poirier, S. Sethi   +3 more
semanticscholar   +1 more source

Hypophosphatasia.

Pediatric endocrinology reviews : PER, 2013
Hypophosphatasia (HPP) is a rare, inherited, potentially life-threatening metabolic disorder that arises from loss-of-function mutations in the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). As a result of these mutations (as many as 260 genetic mutations have been associated with HPP), patients have disordered ...
openaire   +1 more source

Hypophosphatasia

2023
Amas Lee, Udara D. Senarathne, Zhong X. Lu, James Pitt, Samuel D. Vasikaran   +4 more
openaire   +1 more source

Hypophosphatasia

Acta Paediatrica, 1960
openaire   +2 more sources

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

Zeitschrift für Induktive Abstammungs- und Vererbungslehre
Yessine Amri, R. Dabboubi, M. Khémiri, Elham Jebabli, S. Hadj Fredj, Sarra Ben Ahmed, Yosr Jouini, F. Ouali, T. Messaoud   +8 more
semanticscholar   +1 more source

Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review.

Bone
Amirhossein Shirinezhad, Sina Esmaeili, Alireza Azarboo, Yasaman Tavakoli, A. Hoveidaei, Negar Zareshahi, Amirhossein Ghaseminejad-Raeini   +6 more
semanticscholar   +1 more source

Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism.

Bone
M. P. Whyte, Fan Zhang, K. Mack, D. Wenkert, G. Gottesman, K. Ericson, Jeffrey T Cole, S. P. Coburn   +7 more
semanticscholar   +1 more source