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.
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.
Orphanet J Rare Dis
; 19(1): 109, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459585
4.
Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.
Horm Res Paediatr
; 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442110
5.
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.
Orphanet J Rare Dis
; 17(1): 277, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854311
6.
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
Mol Genet Metab Rep
; 25: 100661, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33101980
7.
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
J Clin Endocrinol Metab
; 103(6): 2234-2243, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659871