Detalhe da pesquisa
1.
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
2.
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
Pediatr Radiol
; 54(1): 82-95, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953411
3.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36107167
4.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891212
5.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341520
6.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
7.
Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia.
Qual Life Res
; 28(9): 2553-2563, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31093848
8.
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
J Med Genet
; 55(2): 81-85, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175836
9.
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length.
Am J Med Genet A
; 176(9): 1819-1829, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152086
10.
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.
Am J Med Genet A
; 176(8): 1723-1734, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30070757
11.
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets.
Pediatr Endocrinol Rev
; 15(Suppl 1): 119-122, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29292875
12.
Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children.
Pediatr Endocrinol Rev
; 14(2): 129-137, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28508606
13.
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Adv Ther
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38748332
14.
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Clin Pharmacokinet
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649657
15.
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Adv Ther
; 41(1): 198-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882884
16.
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
Eur J Med Genet
; 68: 104916, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296035
17.
Syndromic forms of congenital hyperinsulinism.
Front Endocrinol (Lausanne)
; 14: 1013874, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37065762
18.
Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia.
Adv Ther
; 40(5): 2457-2470, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017912
19.
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Orphanet J Rare Dis
; 18(1): 219, 2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37501185
20.
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
Horm Res Paediatr
; 2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454648