Detalhe da pesquisa
1.
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Clin Genet
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38863195
2.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994644
3.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044746
4.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35471153
5.
Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.
Calcif Tissue Int
; 111(4): 409-418, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927518
6.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
J Inherit Metab Dis
; 45(5): 937-951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618652
7.
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.
J Inherit Metab Dis
; 44(6): 1353-1368, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145605
8.
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.
Value Health
; 24(2): 268-273, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33518033
9.
Population screening requires robust evidence-genomics is no exception.
Lancet
; 403(10426): 583-586, 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070525
10.
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.
Mol Genet Metab
; 131(1-2): 245-252, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620536
11.
Treating lysosomal storage disorders: What have we learnt?
J Inherit Metab Dis
; 43(1): 125-132, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31140601
12.
Ammonia: what adult neurologists need to know.
Pract Neurol
; 2020 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33310884
13.
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period.
Calcif Tissue Int
; 105(3): 271-284, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31165191
14.
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.
J Inherit Metab Dis
; 42(2): 209-219, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690773
15.
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
J Inherit Metab Dis
; 42(3): 451-458, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30815886
16.
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
J Inherit Metab Dis
; 41(5): 829-838, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29305734
17.
Isolated aortic root dilation in homocystinuria.
J Inherit Metab Dis
; 41(1): 109-115, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980096
18.
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
J Inherit Metab Dis
; 41(5): 865-876, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460029
19.
Mucolipidosis type III, a series of adult patients.
J Inherit Metab Dis
; 41(5): 839-848, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704188
20.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27834756