Detalhe da pesquisa
1.
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature.
J Formos Med Assoc
; 121(3): 712-717, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34420841
2.
Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.
Int J Med Sci
; 18(15): 3373-3379, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34522163
3.
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.
Medicina (Kaunas)
; 58(1)2021 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35056323
4.
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Int J Mol Sci
; 21(1)2019 Dec 23.
Artigo
Inglês
| MEDLINE | ID: mdl-31877959
5.
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
6.
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
7.
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
8.
Functional independence of Taiwanese children with Down syndrome.
Dev Med Child Neurol
; 58(5): 502-7, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26331905
9.
Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome.
Drug Des Devel Ther
; 16: 143-154, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35046639
10.
Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.
J Pers Med
; 12(5)2022 May 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35629241
11.
Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.
Children (Basel)
; 8(11)2021 Oct 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34828665
12.
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.
Mol Genet Metab Rep
; 27: 100768, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34026551
13.
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.
J Pers Med
; 11(11)2021 Oct 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34834418
14.
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Diagnostics (Basel)
; 11(9)2021 Aug 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34573925
15.
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome.
J Pers Med
; 11(11)2021 Nov 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34834549
16.
Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans.
Diagnostics (Basel)
; 10(10)2020 Oct 21.
Artigo
Inglês
| MEDLINE | ID: mdl-33096603
17.
Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis.
Sci Rep
; 9(1): 10755, 2019 07 24.
Artigo
Inglês
| MEDLINE | ID: mdl-31341247
18.
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
Diagnostics (Basel)
; 9(4)2019 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31590383
19.
Functional independence of Taiwanese patients with mucopolysaccharidoses.
Mol Genet Genomic Med
; 7(8): e790, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31215158
20.
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
Orphanet J Rare Dis
; 13(1): 84, 2018 05 25.
Artigo
Inglês
| MEDLINE | ID: mdl-29801497