Detalhe da pesquisa
1.
Predicting Rates of Angular Correction After Hemiepiphysiodesis in Patients With X-Linked Hypophosphatemic Rickets.
J Pediatr Orthop
; 43(6): 379-385, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952253
2.
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
3.
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
4.
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
Am J Med Genet A
; 170A(4): 978-85, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762549
5.
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Am J Med Genet A
; 164A(9): 2287-93, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989131
6.
Inflammatory myofibroblastic tumor in a patient with X-Linked hypophosphatemia: A case of Occam's razor or Hickam's dictum?
Urol Case Rep
; 54: 102710, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38827529
7.
Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism.
Bone
; 181: 117033, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38307176
8.
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
9.
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
10.
X-Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13-15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women.
JBMR Plus
; 6(12): e10692, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530187
11.
Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.
J Clin Endocrinol Metab
; 107(3): 599-613, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741521
12.
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.
J Clin Endocrinol Metab
; 107(3): 813-824, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636899
13.
Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.
J Clin Endocrinol Metab
; 107(8): e3241-e3253, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533340
14.
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Am J Med Genet A
; 155A(12): 3002-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065502
15.
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V.
Bone
; 145: 115835, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33360005
16.
Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.
Bone
; 150: 116007, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34000433
17.
Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy.
Bone
; 138: 115459, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32474245
18.
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
Bone
; 137: 115364, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298837
19.
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health.
Bone
; 136: 115322, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32200022
20.
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).
J Bone Miner Res
; 35(5): 920-931, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31910300