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Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.84-84, Article 84

2018

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Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1799-1809

2018

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Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis

Scientific reports, 2019-07, Vol.9 (1), p.10755-9, Article 10755

2019

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Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

International journal of molecular sciences, 2019-12, Vol.21 (1), p.114

2019

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The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature

Journal of the Formosan Medical Association, 2022-03, Vol.121 (3), p.712-717

2022

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Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Drug design, development and therapy, 2022, Vol.16, p.143-154

2022

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Functional independence of Taiwanese children with Down syndrome

Developmental medicine and child neurology, 2016-05, Vol.58 (5), p.502-507

2016

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Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan

Medicina (Kaunas, Lithuania), 2021-12, Vol.58 (1), p.15

2021

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Functional independence of Taiwanese children with Prader–Willi syndrome

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1309-1314

2018

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The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100768, Article 100768

2021

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Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

Journal of personalized medicine, 2022-05, Vol.12 (5), p.817

2022

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Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Children (Basel), 2021-11, Vol.8 (11), p.952

2021

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Blood Pressure Reactivity and Recovery to Anger Recall in Hypertensive Patients with Type D Personality

Acta Cardiologica Sinica, 2018-09, Vol.34 (5), p.417-423

2018

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Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

Journal of personalized medicine, 2021-10, Vol.11 (11), p.1066

2021

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Functional independence of Taiwanese patients with mucopolysaccharidoses

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e790-n/a

2019

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Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

Journal of personalized medicine, 2021-11, Vol.11 (11), p.1197

2021

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Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.8-13

2016

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Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012

Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.85-85, Article 85

2016

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Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

International journal of medical sciences, 2021-01, Vol.18 (15), p.3373-3379

2021

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Blood Pressure Reactivity and Recovery to Anger Recall in Hypertensive Patients with Type D Personality

Acta Cardiologica Sinica, 2018-09, Vol.34 (5), p.417-423

2018

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Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Children (Basel, Switzerland), 2021, Vol.8 (11)

2021

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The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Molecular genetics and metabolism reports, 2021, Vol.27, p.100768-100768

2021

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Context‐specific roles of diphthamide deficiency in hepatocellular carcinogenesis

The Journal of pathology, 2022-10, Vol.258 (2), p.149-163

2022

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Breast Cancer with Increased Drug Resistance, Invasion Ability, and Cancer Stem Cell Properties through Metabolism Reprogramming

International journal of molecular sciences, 2022-10, Vol.23 (21), p.12875

2022

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Bidirectional association between infectious gastroenteritis and inflammatory bowel disease: a population-based study

European journal of medical research, 2023-09, Vol.28 (1), p.1-337, Article 337

2023

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Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Functional independence of Taiwanese children with Down syndrome

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan

Functional independence of Taiwanese children with Prader–Willi syndrome

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Blood Pressure Reactivity and Recovery to Anger Recall in Hypertensive Patients with Type D Personality

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

Functional independence of Taiwanese patients with mucopolysaccharidoses

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

Blood Pressure Reactivity and Recovery to Anger Recall in Hypertensive Patients with Type D Personality

Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

Context‐specific roles of diphthamide deficiency in hepatocellular carcinogenesis

Breast Cancer with Increased Drug Resistance, Invasion Ability, and Cancer Stem Cell Properties through Metabolism Reprogramming

Bidirectional association between infectious gastroenteritis and inflammatory bowel disease: a population-based study

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