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.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
3.
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 122(1-2): 4-17, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888853
4.
The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Bone
; 178: 116947, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898381
5.
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
J Bone Miner Res
; 37(2): 202-214, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633109
6.
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
J Clin Endocrinol Metab
; 102(9): 3111-3123, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28655174