Detalhe da pesquisa
1.
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
Int J Med Sci
; 21(1): 8-18, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38164354
2.
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
J Med Genet
; 60(5): 430-439, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36137614
3.
Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study.
Neurourol Urodyn
; 41(5): 1177-1184, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35481613
4.
Safety and long-term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients.
Pediatr Transplant
; 26(4): e14228, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35037342
5.
Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis.
Int J Med Sci
; 19(1): 126-131, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34975306
6.
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
J Hum Genet
; 65(7): 619-625, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32246049
7.
Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.
Am J Med Genet A
; 182(4): 721-729, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31953985
8.
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Genet Med
; 21(1): 224-232, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29875425
9.
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Mol Genet Metab
; 123(2): 140-147, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28615118
10.
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
J Hum Genet
; 63(1): 1-8, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29215092
11.
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.
Am J Med Genet A
; 176(9): 1799-1809, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30070758
12.
Functional independence of Taiwanese children with Prader-Willi syndrome.
Am J Med Genet A
; 176(6): 1309-1314, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29696774
13.
Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy.
Biochem Biophys Res Commun
; 486(2): 293-299, 2017 04 29.
Artigo
Inglês
| MEDLINE | ID: mdl-28300554
14.
Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
Clin Chem
; 63(7): 1271-1277, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28450385
15.
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
BMC Neurol
; 17(1): 25, 2017 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28166746
16.
Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.
Int J Mol Sci
; 18(1)2017 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28075357
17.
Fabry in the older patient: Clinical consequences and possibilities for treatment.
Mol Genet Metab
; 118(4): 319-25, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27221354
18.
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
Mol Genet Metab
; 117(4): 431-7, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26899310
19.
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Mol Genet Metab
; 119(1-2): 8-13, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27436784
20.
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
J Pediatr
; 169: 174-80.e1, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26685070