Detalhe da pesquisa
1.
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Osteoporos Int
; 35(3): 439-449, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982856
2.
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Osteoporos Int
; 35(1): 1-10, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982855
3.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Mol Genet Metab
; 132(3): 198-203, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33549410
4.
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.
Hum Mutat
; 36(2): 187-90, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504470