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1.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089648
2.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Genet Med
; 24(7): 1567-1582, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35482014
3.
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Mol Genet Metab
; 135(2): 122-132, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35012890
4.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35266292
5.
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
Am J Hematol
; 96(9): 1156-1165, 2021 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34161616
6.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27509102
7.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Mol Genet Metab
; 127(1): 86-94, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30987917
8.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Am J Med Genet A
; 179(9): 1725-1744, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31222966
9.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Am J Med Genet A
; 179(6): 1091-1097, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30908877
10.
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
Pediatr Blood Cancer
; 66(8): e27788, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31038288
11.
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
Blood Cells Mol Dis
; 68: 226-231, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27839985
12.
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
Am J Med Genet A
; 176(8): 1778-1783, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30055036
13.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834756
14.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Genet Med
; 24(10): 2207, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36205747
15.
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
Am J Hematol
; 92(11): 1170-1176, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28762527
16.
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Mol Genet Metab
; 117(2): 164-71, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26043810
17.
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.
Am J Hematol
; 91(7): 661-5, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27102949
18.
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med
; 17(5): 323-30, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25232851
19.
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.
Mol Genet Metab
; 116(1-2): 61-8, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26095521
20.
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.
Am J Hematol
; 90(7): 592-7, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25776130