Detalhe da pesquisa
1.
A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Calcif Tissue Int
; 112(4): 518-523, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575358
2.
Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.
Calcif Tissue Int
; 111(4): 409-418, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927518
3.
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.
Calcif Tissue Int
; 108(5): 622-633, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33484279
4.
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Lancet
; 393(10189): 2416-2427, 2019 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104833
5.
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period.
Calcif Tissue Int
; 105(3): 271-284, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31165191
6.
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.
Am J Med Genet A
; 176(8): 1768-1772, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055029
7.
Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.
Fetal Diagn Ther
; 41(3): 234-236, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982014
8.
Effects of vitamin D repletion on glycemic control and inflammatory cytokines in adolescents with type 1 diabetes.
Pediatr Diabetes
; 17(1): 36-43, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25524404
9.
Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.
JBMR Plus
; 8(1): ziad001, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690124
10.
Bone health in children and adolescents: risk factors for low bone density.
Pediatr Endocrinol Rev
; 10(3): 318-35, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23724439
11.
Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
J Clin Endocrinol Metab
; 108(11): 2990-2998, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37084401
12.
Sertoli cell tumor and intratubular germ cell neoplasia located in separate gonads in an adolescent patient with complete androgen insensitivity: a case report and review of literature.
J Pediatr Endocrinol Metab
; 25(5-6): 547-51, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22876554
13.
Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature.
J Pediatr Endocrinol Metab
; 25(1-2): 191-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570975
14.
Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature.
Pediatr Endocrinol Rev
; 10(2): 227-33, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23539834
15.
Gorham's disease and diffuse lymphangiomatosis in children and adolescents.
Pediatr Blood Cancer
; 56(4): 667-70, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21298758
16.
Economic burden of growth hormone deficiency in a US pediatric population.
J Manag Care Spec Pharm
; 27(8): 1118-1128, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33896224
17.
Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension.
RMD Open
; 7(3)2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548383
18.
Physical activity and bone health in children and adolescents.
Pediatr Endocrinol Rev
; 7(3): 275-82, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20526241
19.
Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.
JCI Insight
; 5(1)2020 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31805014
20.
Quantifying RANKL and OPG levels in healthy children: A large cross-sectional analysis.
Bone
; 127: 215-219, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31212033