Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.
Mol Genet Metab
; 141(1): 107736, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000346
3.
Aminotransferase trends in propionic acidemia.
Am J Med Genet A
; : e63659, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722054
4.
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Am J Hematol
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38686876
5.
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1.
Genet Med
; 25(2): 100329, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36469032
6.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
N Engl J Med
; 381(1): 25-35, 2019 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31269546
7.
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
8.
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
9.
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
10.
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.
Mol Genet Metab
; 132(2): 100-111, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33485799
11.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
12.
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Am J Med Genet A
; 182(6): 1460-1465, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267060
13.
Real-world effectiveness of eliglustat in treatment-naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.
Am J Hematol
; 95(9): 1038-1046, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32438452
14.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27509102
15.
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?
Genet Med
; 21(2): 459-463, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29872110
16.
Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma.
J Pediatr
; 206: 190-196, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30413310
17.
Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood.
J Clin Psychol Med Settings
; 26(3): 259-270, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298332
18.
ß-Glucocerebrosidase Modulators Promote Dimerization of ß-Glucocerebrosidase and Reveal an Allosteric Binding Site.
J Am Chem Soc
; 140(18): 5914-5924, 2018 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29676907
19.
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.
Mol Genet Metab
; 123(3): 347-356, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358012
20.
Schaaf-Yang syndrome overview: Report of 78 individuals.
Am J Med Genet A
; 176(12): 2564-2574, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302899