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.
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.
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
5.
The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Bone
; 178: 116947, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898381
6.
Growth and disease burden in children with hypophosphatasia.
Endocr Connect
; 12(5)2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917043
7.
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
8.
Rare Diseases That Impersonate One Another: X-Linked Hypophosphatemia and Tumor-Induced Osteomalacia, a Retrospective Analysis of Discriminating Features.
JBMR Plus
; 6(2): e10580, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35229062
9.
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
10.
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
11.
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
12.
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL).
J Endocr Soc
; 4(8): bvaa084, 2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803091
13.
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
Bone
; 127: 228-243, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085352
14.
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