Detalhe da pesquisa
1.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294974
2.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
Mol Genet Metab
; 142(1): 108347, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401382
3.
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
Mol Genet Metab
; 139(4): 107631, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453187
4.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
J Inherit Metab Dis
; 46(5): 956-971, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340906
5.
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Mol Genet Metab
; 134(1-2): 96-116, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34340878
6.
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
J Inherit Metab Dis
; 39(2): 285-92, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26450354
7.
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
J Inherit Metab Dis
; 38(2): 323-31, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25048386
8.
Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations.
Blood Adv
; 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513134
9.
Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233].
Contemp Clin Trials Commun
; 38: 101264, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38533474
10.
Vision on gyrate atrophy: why treat the eye?
EMBO Mol Med
; 16(1): 4-7, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177529
11.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Ther Adv Rare Dis
; 5: 26330040241245721, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38681798
12.
Up to five years experience with 11 mucopolysaccharidosis type VI patients.
Mol Genet Metab
; 109(1): 70-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23523338
13.
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).
Am J Med Genet A
; 161A(10): 2550-3, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23949968
14.
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI.
J Inherit Metab Dis
; 36(2): 227-34, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22278137
15.
Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels.
Clin J Am Soc Nephrol
; 18(10): 1272-1282, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37499686
16.
Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.
Contemp Clin Trials Commun
; 36: 101233, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38144875
17.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Int J Neonatal Screen
; 9(4)2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873847
18.
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
Orphanet J Rare Dis
; 17(1): 383, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271424
19.
Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.
Neurology
; 96(11): 529-540, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504638
20.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
Front Neurol
; 12: 668640, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163424