Detalhe da pesquisa
1.
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Am J Med Genet A
; : e63781, 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38884565
2.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
; 194(2): 243-252, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814549
3.
Long-term Results of Developmental Hip Dysplasia Under Therapy With Pavlik Harness.
J Pediatr Orthop
; 44(3): 135-140, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073187
4.
Breast satisfaction in adult women with Turner syndrome-An international survey employing the BREAST-Q questionnaire.
Clin Endocrinol (Oxf)
; 98(1): 82-90, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581594
5.
Osteoporosis in children and adolescents: how to treat and monitor?
Eur J Pediatr
; 182(2): 501-511, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36472650
6.
Osteoporosis in children and adolescents: when to suspect and how to diagnose it.
Eur J Pediatr
; 181(7): 2549-2561, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384509
7.
Burosumab Therapy in Children with X-Linked Hypophosphatemia.
N Engl J Med
; 378(21): 1987-1998, 2018 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29791829
8.
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
9.
The effect of vitamin D supplementation and nutritional intake on skeletal maturity and bone health in socio-economically deprived children.
Eur J Nutr
; 60(6): 3343-3353, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33611615
10.
Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.
Int J Mol Sci
; 22(2)2021 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33435159
11.
Guidance to Bone Morbidity in Children and Adolescents Undergoing Allogeneic Hematopoietic Stem Cell Transplantation.
Biol Blood Marrow Transplant
; 26(2): e27-e37, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31618689
12.
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
13.
Micronutrient deficiencies and health-related quality of life: the case of children with vitamin D deficiency.
Public Health Nutr
; 23(7): 1165-1172, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30744725
14.
Nutritional rickets & osteomalacia: A practical approach to management.
Indian J Med Res
; 152(4): 356-367, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33380700
15.
New developments in the management of achondroplasia.
Wien Med Wochenschr
; 170(5-6): 104-111, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144686
16.
The Utility of DXA Assessment at the Forearm, Proximal Femur, and Lateral Distal Femur, and Vertebral Fracture Assessment in the Pediatric Population: 2019 ISCD Official Position.
J Clin Densitom
; 22(4): 567-589, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31421951
17.
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.
BMC Musculoskelet Disord
; 20(1): 80, 2019 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764793
18.
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
PLoS Genet
; 12(7): e1006156, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441836
19.
Comparing modalities of conducting the six-minute walk test in healthy children and adolescents.
Minerva Pediatr
; 71(3): 229-234, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31017381
20.
Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg.
BMC Pediatr
; 18(1): 183, 2018 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940979