Detalhe da pesquisa
1.
The future is now: Technology's impact on the practice of genetic counseling.
Am J Med Genet C Semin Med Genet
; 178(1): 15-23, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29512937
2.
The management and treatment of children with Fabry disease: A United States-based perspective.
Mol Genet Metab
; 117(2): 104-13, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26546059
3.
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
J Med Genet
; 52(12): 860-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490103
4.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med
; 17(5): 323-30, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232851
5.
Fabry Disease practice resource: Focused revision.
J Genet Couns
; 29(5): 715-717, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885538
6.
FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.
J Rare Dis (Berlin)
; 3(1): 2, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187171
7.
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
J Genet Couns
; 22(5): 555-64, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23860966
8.
Validation of a suspicion index to identify patients at risk for hereditary angioedema.
J Allergy Clin Immunol Glob
; 2(1): 76-78, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37780104
9.
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.
Clin Kidney J
; 13(6): 913-925, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33391734
10.
Diagnosis of Fabry disease via analysis of family history.
J Genet Couns
; 17(1): 79-83, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172746
11.
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Mol Genet Genomic Med
; 2018 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29649853
12.
The Impact of Fabry Disease on Reproductive Fitness.
JIMD Rep
; 37: 85-97, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28324326
13.
Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease.
J Biomech
; 49(9): 1961-1968, 2016 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27109052
14.
Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments.
JIMD Rep
; 18: 41-50, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25567791