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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
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2494
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- Article
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1365729
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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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- 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
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
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- International Journal of Medical Sciences, 2024, v. 21, n. 1, p. 8, doi. 10.7150/ijms.84154
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- Article
22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
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- International Journal of Medical Sciences, 2023, v. 20, n. 11, p. 1377, doi. 10.7150/ijms.86773
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- Article
Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA.
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- Journal of Personalized Medicine, 2023, v. 13, n. 3, p. 494, doi. 10.3390/jpm13030494
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- 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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- 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
Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.
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- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1199, doi. 10.3390/jpm12081199
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- Article
Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.
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- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1205, doi. 10.3390/jpm12081205
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- Article
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.
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- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1338, doi. 10.3390/jpm12081338
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- Article
The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study.
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- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1343, doi. 10.3390/jpm12081343
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- Article
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1023, doi. 10.3390/jpm12071023
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- Article
Surgical Strategy to Decrease the Revision Rate of Fassier–Duval Nailing in the Lower Limbs of Osteogenesis Imperfecta.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1151, doi. 10.3390/jpm12071151
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- Article
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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- 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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- Article
Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.
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- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 817, doi. 10.3390/jpm12050817
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- 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
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
Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis.
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- International Journal of Medical Sciences, 2022, v. 19, n. 1, p. 126, doi. 10.7150/ijms.66448
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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
Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.
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- International Journal of Medical Sciences, 2021, v. 18, n. 15, p. 3373, doi. 10.7150/ijms.61827
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- Article
Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.
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- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8110952
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- Article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
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- Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
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- Article
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.
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- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1066, doi. 10.3390/jpm11111066
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- Article
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome.
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- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1197, doi. 10.3390/jpm11111197
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- 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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- Article
Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan.
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- International Journal of Medical Sciences, 2021, v. 18, n. 5, p. 1240, doi. 10.7150/ijms.53286
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- Article
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II.
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- 2021
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- journal 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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Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019).
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- 2020
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- journal 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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- 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
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 357, doi. 10.1002/ajmg.a.61429
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- 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
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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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
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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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
Functional independence of Taiwanese patients with mucopolysaccharidoses.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.790
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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
Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.617
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- 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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- journal article
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 982, doi. 10.1002/mgg3.471
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- Article
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1799, doi. 10.1002/ajmg.a.40351
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- 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
Functional independence of Taiwanese children with Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1309, doi. 10.1002/ajmg.a.38705
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- Article