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Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.
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- Diagnostics (2075-4418), 2024, v. 14, n. 16, p. 1815, doi. 10.3390/diagnostics14161815
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- Article
Plasmonic Gold Nanorods Coverage Influence on Enhancement of the Photoluminescence of Two-Dimensional MoS<sub>2</sub> Monolayer.
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- Scientific Reports, 2015, p. 16374, doi. 10.1038/srep16374
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- Article
Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential.
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- Cell Death & Disease, 2024, v. 15, n. 4, p. 1, doi. 10.1038/s41419-024-06692-9
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- Article
FADS Genetic Variants in Taiwanese Modify Association of DHA Intake and Its Proportions in Human Milk.
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- Nutrients, 2020, v. 12, n. 2, p. 543, doi. 10.3390/nu12020543
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- Article
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.
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- 2019
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- journal article
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
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- 2019
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- Publication type:
- journal article
Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA.
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- 2018
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- journal article
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS).
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- 2018
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- journal article
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
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- 2018
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- journal article
Targeting histone deacetylase in cancer therapy.
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- Medicinal Research Reviews, 2006, v. 26, n. 4, p. 397, doi. 10.1002/med.20056
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- Article
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9979, doi. 10.3390/ijms23179979
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- Article
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
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- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 114, doi. 10.3390/ijms21010114
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- Article
Evaluation of preliminary causes for vitamin D series degradation via DSC and HPLC analyses.
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- Journal of Thermal Analysis & Calorimetry, 2017, v. 130, n. 3, p. 1357, doi. 10.1007/s10973-017-6209-4
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- Article
Comparison of the effect of Pleurotus citrinopileatus extract and vitamin E on the stabilization properties of camellia oil.
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- Journal of Thermal Analysis & Calorimetry, 2017, v. 130, n. 3, p. 1281, doi. 10.1007/s10973-017-6423-0
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- Article
Solid byproducts of Aurantiochytrium sp. oil made into the biodiesel.
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- Journal of Thermal Analysis & Calorimetry, 2015, v. 120, n. 1, p. 563, doi. 10.1007/s10973-015-4437-z
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- Article
Gamma irradiation for improving functional ingredients and determining the heat treatment conditions of Cordyceps militaris mycelia.
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- Journal of Thermal Analysis & Calorimetry, 2015, v. 120, n. 1, p. 439, doi. 10.1007/s10973-015-4523-2
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- Article
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment.
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- Pediatric Pulmonology, 2014, v. 49, n. 3, p. 277, doi. 10.1002/ppul.22774
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- Article
Polysomnographic characteristics in patients with mucopolysaccharidoses.
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- Pediatric Pulmonology, 2010, v. 45, n. 12, p. 1205, doi. 10.1002/ppul.21309
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- Article
Polysomnographic characteristics in patients with Prader-Willi syndrome.
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- Pediatric Pulmonology, 2007, v. 42, n. 10, p. 881, doi. 10.1002/ppul.20673
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- Article
Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome.
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- Drug Design, Development & Therapy, 2022, v. 16, p. 143, doi. 10.2147/DDDT.S219433
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- Article
Adaptive sampling approach for volumetric shadows in dynamic scenes.
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- IET Image Processing (Wiley-Blackwell), 2013, v. 7, n. 8, p. 762, doi. 10.1049/iet-ipr.2013.0067
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- Article
Genetic Studies of Prader-Willi Patients Provide Evidence for Conservation of Genomic Architecture in Proximal Chromosome 15q.
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- Annals of Human Genetics, 2011, v. 75, n. 2, p. 211, doi. 10.1111/j.1469-1809.2010.00633.x
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- Article
Evaluation of the Therapeutic and Diagnostic Effects of PEGylated Liposome-Embedded <sup>188</sup>Re on Human Non-Small Cell Lung Cancer Using an Orthotopic Small-Animal Model.
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- Journal of Nuclear Medicine, 2014, v. 55, n. 11, p. 1864, doi. 10.2967/jnumed.114.140418
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- Article
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
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- Diagnostics (2075-4418), 2024, v. 14, n. 8, p. 846, doi. 10.3390/diagnostics14080846
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- Publication type:
- Article
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.
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- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2306, doi. 10.3390/diagnostics12102306
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- Publication type:
- Article
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
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- Diagnostics (2075-4418), 2021, v. 11, n. 9, p. 1583, doi. 10.3390/diagnostics11091583
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- Publication type:
- Article
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy.
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- Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 16, doi. 10.3390/diagnostics11010016
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- Article
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.
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- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 854, doi. 10.3390/diagnostics10100854
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- Publication type:
- Article
Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.
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- Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 62, doi. 10.3390/diagnostics10020062
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- Article
Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.
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- Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 148, doi. 10.3390/diagnostics9040148
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- Article
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
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- Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 140, doi. 10.3390/diagnostics9040140
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- Article
External beam radiotherapy synergizes <sup>188</sup>Re-liposome against human esophageal cancer xenograft and modulates <sup>188</sup>Re-liposome pharmacokinetics.
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- International Journal of Nanomedicine, 2015, v. 10, p. 3641, doi. 10.2147/IJN.S80302
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- Article
Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome.
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- Journal of Clinical Ultrasound, 2007, v. 35, n. 7, p. 409, doi. 10.1002/jcu.20323
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- Article
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
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- 2016
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- journal article
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
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- 2015
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- Publication type:
- journal article
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.
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- 2014
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- Publication type:
- journal article
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
- Published in:
- 2014
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- Publication type:
- journal article
A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses.
- Published in:
- 2014
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- Publication type:
- journal article
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).
- Published in:
- 2014
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- Publication type:
- journal article
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
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- 2013
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- Publication type:
- journal article
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses.
- Published in:
- 2013
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- Publication type:
- journal article
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.
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- Medicina (1010660X), 2022, v. 58, n. 1, p. 15, doi. 10.3390/medicina58010015
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- Article
Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan.
- Published in:
- 2013
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- Correction notice
Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.
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- Children, 2022, v. 9, n. 6, p. 905, doi. 10.3390/children9060905
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- Publication type:
- Article
Degradation of Polylactic Acid by Irradiation.
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- Journal of Polymers & the Environment, 2018, v. 26, n. 1, p. 122, doi. 10.1007/s10924-016-0928-7
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- Publication type:
- Article
Airway Management of the Deformed Trachea Using T-Tube Stents in Patients with Mucopolysaccharidosis Type IVA.
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- Annals of Otology, Rhinology & Laryngology, 2022, v. 131, n. 5, p. 562, doi. 10.1177/00034894211032778
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- Publication type:
- Article
Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 421, doi. 10.1007/s10545-010-9212-5
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- Publication type:
- Article
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 619, doi. 10.1007/s10545-010-9166-7
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- Publication type:
- Article
Infected cephalohaematoma with serious complications: Is it preventable?
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- Journal of Paediatrics & Child Health, 2022, v. 58, n. 2, p. 349, doi. 10.1111/jpc.15497
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- Article
Population based retrospective cohort study on risk of retinopathy of prematurity in twins.
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- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230346
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- Article