D. Niu

发表

Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004

W. Hwu, F. Tsai, Shio‐Jean Lin, 2009, American journal of medical genetics. Part A.

Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan

P. Kuo, Hsiang-Yu Lin, Shuan-Pei Lin, 2007, Acta paediatrica.

N. Chiu, H. Hung, P. Kuo, 2007, Pediatrics international : official journal of the Japan Pediatric Society.

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

F. Tsai, Yann‐Jang Chen, D. Niu, 2014, Clinica chimica acta; international journal of clinical chemistry.

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

D. Niu, Chia-Feng Yang, Wei-yu Chen, 2021, Molecular genetics and metabolism reports.

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)

Shih-Jen Chen, Hsiang-Yu Lin, Shuan-Pei Lin, 2010, Journal of Inherited Metabolic Disease.

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

Yin-Hsiu Chien, Wuh-Liang Hwu, Shu-Min Kao, 2010, Journal of Inherited Metabolic Disease.

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes

Chih-jou Lai, D. Niu, An‐Guor Wang, 2017, Journal of the Chinese Medical Association : JCMA.

Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography.

Y. Chien, K. Hsiao, Yen-Yin Chou, 2016, Clinica chimica acta; international journal of clinical chemistry.

Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.

Hsiang-Yu Lin, D. Niu, Yu-Hsiu Huang, 2015, Clinical nutrition.

Hepatomegaly and hyperammonemia in a girl with Silver–Russell syndrome caused by maternal uniparental isodisomy of chromosome 7

Sheng-Hung Lee, F. Lo, Hsiang-Yu Lin, 2014, American journal of medical genetics. Part A.

Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane.

Yi-Min Kuo, C. Sung, D. Niu, 2014, Journal of the Chinese Medical Association : JCMA.

Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan

Y. Chien, K. Hsiao, Shuan-Pei Lin, 2014, Biochemical Genetics.

Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.

Jer-Yuarn Wu, D. Niu, Yu-Hsiu Huang, 2012, Molecular genetics and metabolism.

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Dong Hwan Lee, K. Hsiao, Jun Ye, 2012, Journal of Human Genetics.

Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan

D. Niu, 2011, Brain and Development.

Corneal lesion as the initial manifestation of tyrosinemia type II.

D. Niu, W. Hsu, Shui‐Mei Lee, 2006, Journal of the Chinese Medical Association : JCMA.

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

K. Hsiao, Tze-tze Liu, D. Niu, 2006, Molecular genetics and metabolism.

Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.

D. Niu, K. Cheng, Miao-Chiu Hung, 2007, Journal of the Chinese Medical Association : JCMA.

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

K. Hsiao, Tze-tze Liu, D. Niu, 2008, Archives of neurology.

Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia

K. Hsiao, Hsiang-Yu Lin, Tze-tze Liu, 2009, Journal of the Chinese Medical Association : JCMA.

Idiopathic Calcinosis Cutis in a Child: Chemical Composition of the Calcified Deposits

C. Pan, Wen-ting Cheng, Chih-Cheng Lin, 2011, Dermatology.

Aortic regurgitation in Marfan syndrome patients who underwent prophylactic surgery: A single-center experience

D. Niu, Chien‐Chang Juan, Hsing‐Yuan Li, 2021, Journal of the Chinese Medical Association : JCMA.

Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease

T. Shih, H. Chiou, D. Niu, 2019, Journal of Medical and Biological Engineering.

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

D. Niu, Y. Chu, B. Hwang, 2002, The Journal of clinical endocrinology and metabolism.

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)

Hsiang-Yu Lin, Shuan-Pei Lin, D. Niu, 2013, BMJ Open.

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis

U. Ramaswami, R. Giugliani, G. Pintos-Morell, 2016, Drug design, development and therapy.

DDDT_A_207856 3705..3715

U. Ramaswami, R. Giugliani, G. Pintos-Morell, 2019 .

Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis

U. Ramaswami, R. Giugliani, G. Pintos-Morell, 2016 .

Fabry Outcome Survey Analyses and Publications : Highlights of the Last 15 Years Diagnosis , Disease Severity , and Mortality

U. Ramaswami, R. Giugliani, G. Pintos-Morell, 2016 .

Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa

Hsiang-Yu Lin, Shuan-Pei Lin, D. Niu, 2014, Journal of the Chinese Medical Association : JCMA.

Factors Associated with Recurrence Within 2 Years After Curative Surgery for Gastric Adenocarcinoma

S. Chiou, Chew-wun Wu, Kuo-Hung Huang, 2011, World Journal of Surgery.

Mutation spectrum of the fibrillin‐1 (FBN1) gene in Taiwanese patients with Marfan syndrome

Chih-ping Chen, Chien-Nan Lee, Shuan-Pei Lin, 2009, Annals of human genetics.

Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.

Chien-Nan Lee, Shuan-Pei Lin, Huiru Cheng, 2009, Analytical biochemistry.

Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.

Inn-Chi Lee, P. Su, Jia-yuh Chen, 2014, Journal of the Formosan Medical Association = Taiwan yi zhi.

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia

M. Charng, Chin‐Chou Huang, D. Niu, 2021, Journal of atherosclerosis and thrombosis.

Review article Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan q

D. Niu, 2011 .

Characterization of pulmonary function impairments in patients with mucopolysaccharidoses—changes with age and treatment

Shio‐Jean Lin, Hsiang-Yu Lin, Shuan-Pei Lin, 2014, Pediatric pulmonology.

Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan.

N. Yamamoto-Mitani, S. Turale, F. Shih, 2012, Journal of Clinical Nursing.

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array‐based analysis in Silver–Russell syndrome

W. Tsai, Chien-Nan Lee, Shuan-Pei Lin, 2010, American journal of medical genetics. Part A.

Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan

W. Hwu, K. Hsiao, Hsiang-Yu Lin, 2010, Journal of the Chinese Medical Association : JCMA.

A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan.

F. Tsai, S. P. Lin, J. Y. Wu, 2001, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

S. Chiou, Wen-Chung Yu, Wei‐Chao Chang, 2017, International journal of cardiology.

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

L. Ho, C. Kwok, D. Niu, 2010, Journal of Inherited Metabolic Disease.

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

Yen-Yin Chou, Hsiang-Yu Lin, Shuan-Pei Lin, 2021, Journal of personalized medicine.

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

Chih-ping Chen, Hsi-Che Liu, Hsiang-Yu Lin, 2016, Molecular genetics and metabolism.

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Hsiang-Yu Lin, Shuan-Pei Lin, Yidi Su, 2015, Orphanet Journal of Rare Diseases.

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis

Hsiang-Yu Lin, Shuan-Pei Lin, D. Niu, 2022, International journal of medical sciences.

Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.

D. Niu, Chun-kai Huang, Hsuan-Chieh Liao, 2017, Molecular genetics and metabolism.

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.

Aimé Ntwari, C. Auray-Blais, D. Niu, 2017, Clinica chimica acta; international journal of clinical chemistry.

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Wen-Chung Yu, Hsiang-Yu Lin, D. Niu, 2015, JIMD reports.

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Wen-Chung Yu, F. Tsai, C. Fann, 2013, Clinica chimica acta; international journal of clinical chemistry.

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

Jan-Gowth Chang, Hong-Duo Chen, D. Niu, 2012, Clinica chimica acta; international journal of clinical chemistry.

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

Shing‐Jong Lin, Hsiang-Yu Lin, C. Hsueh, 2009, Circulation. Cardiovascular genetics.

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative

R. Schiffmann, J. Moon, D. Warnock, 2020, BMJ Open.

Development of monocyte Toll-like receptor 2 and Toll-like receptor 4 in preterm newborns during the first few months of life

Shih-Chang Lin, D. Niu, Y. Kou, 2013, Pediatric Research.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Wen-Chung Yu, R. Desnick, Hsiang-Yu Lin, 2016, Journal of the American College of Cardiology.

Domino liver graft from a patient with homozygous familial hypercholesterolemia

M. Tsou, D. Niu, C. Loong, 2010, Pediatric transplantation.

Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy.

S. Chiou, Wen-Chung Yu, Shing‐Jong Lin, 2016, The Canadian journal of cardiology.

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

U. Ramaswami, R. Giugliani, G. Pintos-Morell, 2022, Orphanet Journal of Rare Diseases.

Very rare condition of multiple Gaucheroma: A case report and review of the literature

W. Soong, Y. Yeh, D. Niu, 2019, Molecular genetics and metabolism reports.

Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay

S. Tsai, Yen-Ming Liu, R. Kirby, 2020, Molecular Genetics and Metabolism Reports.

Labour increases the surface expression of two toll‐like receptors in the cord blood monocytes of healthy term newborns

Shih-Chang Lin, D. Niu, Y. Kou, 2009, Acta paediatrica.

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

W. Hwu, F. Tsai, Shio‐Jean Lin, 2018, American journal of medical genetics. Part A.

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

W. Hwu, F. Tsai, Hsiang-Yu Lin, 2014, Orphanet Journal of Rare Diseases.

Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy.

Wen-Chung Yu, Kuan-Hsuan Chen, Yuh-Lih Chang, 2017, Biochemical and biophysical research communications.

Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study

K. Liao, D. Niu, B. Soong, 2004, European Neurology.

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

W. Soong, Chih-jou Lai, D. Niu, 2016, The Journal of pediatrics.

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

Wen-Chung Yu, S. Sung, D. Niu, 2017, International journal of molecular sciences.

Fabry disease: Review and experience during newborn screening.

D. Niu, Ting-Rong Hsu, 2017, Trends in cardiovascular medicine.

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase de W ciency

K. Hsiao, Tze-tze Liu, D. Niu, 2005 .

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

Yuan-Tsong Chen, Jer-Yuarn Wu, D. Niu, 2006, Journal of Medical Genetics.

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

C. Tiu, Wen-Chung Yu, S. Hung, 2017, BMC Neurology.

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

N. Chen, J. Politei, S. Nampoothiri, 2021, Molecular genetics & genomic medicine.

Fabry in the older patient: Clinical consequences and possibilities for treatment.

K. Nicholls, D. Hughes, E. Brand, 2016, Molecular genetics and metabolism.

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.

H. Gülen, D. Niu, A. Tekin, 2021, Journal of clinical lipidology.

R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese

M. T. Lee, J. Wu, Y. T. Chen, 2005, Journal of Medical Genetics.

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

S. Hung, Po‐Hsun Huang, D. Niu, 2017, Journal of Human Genetics.

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

S. Tsai, Chien-Hsing Lin, Sheng-Hung Lee, 2014, Molecular genetics and metabolism.

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

D. Niu, Shang-Liang Wu, Yen-Fu Cheng, 2021, Orphanet Journal of Rare Diseases.

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy

Shyi-Jou Chen, Chih-jou Lai, D. Niu, 2016, Journal of child neurology.

Functional independence of Taiwanese children with Prader–Willi syndrome

Y. Chien, F. Tsai, Yen-Yin Chou, 2018, American journal of medical genetics. Part A.

A large‐scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

Chih-jou Lai, D. Niu, Hui-Chen Ho, 2014, American journal of medical genetics. Part A.

Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease

Wen-Chung Yu, J. Liao, S. Sung, 2020, Journal of the Chinese Medical Association : JCMA.

5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts

Wen-Chung Yu, C. Auray-Blais, S. Sung, 2017, Nephron.

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients

Wen-Chung Yu, Yen-Feng Wang, S. Hung, 2018, Genetics in Medicine.

Electrophysiological changes in lipaemia retinalis.

Shih-Jen Chen, F. Lee, D. Niu, 2005, American journal of ophthalmology.

TLR2 Agonists Enhance CD8+Foxp3+ Regulatory T Cells and Suppress Th2 Immune Responses during Allergen Immunotherapy

Kuender D Yang, Ching-Yuang Lin, Y. Tsai, 2010, The Journal of Immunology.

ImmunotherapyImmune Responses during Allergen Regulatory T Cells and Suppress Th2 + Foxp3+ TLR2 Agonists Enhance CD8

Kuender D Yang, Ching-Yuang Lin, Y. Tsai, 2010 .

Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.

M. Chiang, Yih-Ru Wu, Y. Chern, 2007, Human molecular genetics.

The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago

Yun-Ru Chen, Kung-Hao Liang, D. Niu, 2020, Journal of Human Genetics.

Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy.

Wen-Chung Yu, Chen-Huan Chen, S. Hung, 2021, European heart journal. Cardiovascular Imaging.

Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy

Tsai-Chu Yeh, Yun-Ru Chen, D. Niu, 2022, Molecular genetics and metabolism reports.

Post-traumatic pericarditis mimicking hemopericardium after endomyocardial biopsy in a patient with Fabry disease

D. Niu, Hsing‐Yuan Li, Pi‐Chang Lee, 2019, Gazzetta Medica Italiana Archivio per le Scienze Mediche.

Late-Onset Pompe Disease With Left-Sided Bronchomalacia

M. Jeng, Yu-Sheng Lee, W. Soong, 2015, Respiratory Care.

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)

Wen-Chung Yu, Hsiang-Yu Lin, Shuan-Pei Lin, 2014, Orphanet Journal of Rare Diseases.

Left Ventricular Apical Aneurysm in Fabry Disease: Implications for Clinical Significance and Risk Stratification

Wen-Chung Yu, Hao-Chih Chang, S. Sung, 2022, Journal of the American Heart Association.

Muscle ultrasound

H. Chiou, D. Niu, Hsin-Kai Wang, 2017, Medicine.

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

K. Kosaki, D. Niu, Kai-Ming Liu, 2006, Prenatal diagnosis.

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.

W. Hwu, F. Tsai, Shio‐Jean Lin, 2016, Molecular genetics and metabolism.

Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation

C. Lin, S. Hung, H.-J. Lee, 2016, American Journal of Neuroradiology.

Clinical features of Ehlers-Danlos syndrome.

Shuan-Pei Lin, D. Niu, Ming-Ren Chen, 2006, Journal of the Formosan Medical Association = Taiwan yi zhi.

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses

W. Hwu, Hsiang-Yu Lin, Shuan-Pei Lin, 2019, Molecular genetics & genomic medicine.

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

Chih-ping Chen, Y. Chien, W. Hwu, 2010, Journal of Inherited Metabolic Disease.

Polysomnographic characteristics in patients with mucopolysaccharidoses

Chih-ping Chen, D. Lin, Hsiang-Yu Lin, 2010, Pediatric pulmonology.

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2021, Orphanet Journal of Rare Diseases.

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2018, Orphanet Journal of Rare Diseases.

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

Y. Chien, W. Hwu, F. Tsai, 2016, Molecular genetics and metabolism reports.

R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.

Chun-Chao Chang, Horng-Yuan Lou, D. Niu, 2015, Journal of clinical gastroenterology.

Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease

M. Chiang, Yih-Ru Wu, Y. Chern, 2007 .

Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates

M.-J. Li, S.-Y. Lin, D. Niu, 2000, Journal of Inherited Metabolic Disease.

Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite.

C. Pan, D. Niu, M. Chung, 2002, The Journal of pediatrics.

AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation

Wen-Chung Yu, R. Desnick, S. Hung, 2017 .

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)

Y. Chien, W. Hwu, F. Tsai, 2018, Orphanet Journal of Rare Diseases.

Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.

M. Gelb, D. Niu, Chun-kai Huang, 2017, Clinical chemistry.

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

S. Hung, Po‐Hsun Huang, D. Niu, 2017, Journal of Human Genetics.

Pre-Hypertrophy Reduction of Diastolic Deformation in Fabry Disease

Hsin-Yueh Liang, W. Cheng, D. Niu, 2012 .

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

T. Jap, D. Niu, Hsiao-Chi Yu, 2009, The Journal of clinical endocrinology and metabolism.

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature

C. Tiu, D. Niu, B. Hwang, 2005, European Journal of Pediatrics.

Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction‐mimetic agent

Hsiang-Yu Lin, Shuan-Pei Lin, Y. Weng, 2012, The Prostate.

Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.

J. Shieh, H. Chiou, D. Niu, 2012, Gene.

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability

C. Chiu, T. Jap, M. Levine, 2011, Calcified Tissue International.

Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.

M. Charng, D. Niu, Hao-Chuan Liu, 2015, Journal of clinical lipidology.

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.

H. Chao, F. Tsai, Shio‐Jean Lin, 2008, Molecular genetics and metabolism.

Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency

D. Niu, Hsien-Hsiung Lee, Ching-Yu Lin, 2002, Journal of Human Genetics.

Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.

D. Niu, Yu-Hsiu Huang, Yung-Hsiu Lu, 2012, Blood cells, molecules & diseases.

Functional independence of Taiwanese children with Down syndrome

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2016, Developmental medicine and child neurology.

Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases

Tsai-Chu Yeh, D. Niu, Hui-Chen Cheng, 2022, Eye.

Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function

M. Hsieh, D. Niu, P. Chen, 2021, Frontiers in Pediatrics.

A 15-Year Perspective of the Fabry Outcome Survey:

Derralynn Hughes, Roberto Giugliani, Michael Beck, 2016 .

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2022, Journal of personalized medicine.

A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.

C. Chiu, T. Jap, Wei-Lun Chang, 2014, Diabetes research and clinical practice.

Comparison of radioisotopic and ultrasonic scanning in the evaluation of neonatal hypothyroidism.

Y. Chou, C. Tiu, D. Niu, 1995, Zhonghua yi xue za zhi = Chinese medical journal; Free China ed.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Dong Hwan Lee, Nguyen Ngoc Khanh, T. Taketani, 2018, Molecular genetics and metabolism reports.

Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma

Kuender D Yang, Y. Tsai, C. Hung, 2012, Laboratory Investigation.

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

Shih-Jen Chen, Yuan-Tsong Chen, Chien-Hsiun Chen, 2016, Investigative ophthalmology & visual science.

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome

D. Niu, Chia-Hsiang Chen, Hsiao-Mei Liao, 2011, Journal of Human Genetics.

Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease

Shyr‐Yi Lin, Jan-Gowth Chang, Chi-Yu Lu, 2017, PloS one.

Audiological and otologic manifestations of glutaric aciduria type I

D. Niu, Yen-Fu Cheng, Chia-Hung Wu, 2020, Orphanet Journal of Rare Diseases.

Extreme hypernatremia combined with rhabdomyolysis and acute renal failure.

D. Niu, Jei-Wen Chang, Ling-Yu Yang, 2009, Journal of the Chinese Medical Association : JCMA.

The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.

Yann-Jinn Lee, M. Chao, D. Niu, 2009, Molecular genetics and metabolism.

A whole genome methylation analysis of systemic lupus erythematosus: hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity

E. Chuang, L. Lai, W. Hsieh, 2011, Genes and Immunity.

Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2014, Molecular genetics and metabolism.

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Hsiang-Yu Lin, Shuan-Pei Lin, Ya-Hui Chang, 2019, Diagnostics.

The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2018, Molecular genetics & genomic medicine.

Giant congenital melanocytic nevi in neonates: report of two cases.

J. Lirng, D. Niu, B. Hwang, 2010, Pediatrics and neonatology.

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2019, Orphanet Journal of Rare Diseases.

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

Y. Chien, W. Hwu, F. Tsai, 2016, Orphanet Journal of Rare Diseases.

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

W. Hwu, F. Tsai, Shio‐Jean Lin, 2019, Diagnostics.

Functional independence of Taiwanese patients with mucopolysaccharidoses

W. Hwu, F. Tsai, Hsiang-Yu Lin, 2019, Molecular genetics & genomic medicine.

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2020, Diagnostics.

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)

Y. Chien, W. Hwu, F. Tsai, 2020, Orphanet Journal of Rare Diseases.

Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2020, Diagnostics.

Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA.

W. Hwu, F. Tsai, Hsiang-Yu Lin, 2019, Pediatrics and neonatology.

Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2013, Orphanet Journal of Rare Diseases.

Turner syndrome phalangeal screening based on a two‐stage linear regression concept

Tai-Lang Jong, Tzu-Chiang Liu, Chui-Mei Tiu, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome.

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2011, Journal of the Formosan Medical Association = Taiwan yi zhi.

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

K. Hsiao, Y. Qi, Shio‐Jean Lin, 2012, JIMD reports.

Congenital hypothyroidism with multiple ovarian cysts

Y. Chou, C. Tiu, D. Niu, 1999, European Journal of Pediatrics.

Very rare condition of multiple Gaucheroma: A case report and review of the literature☆

W. Soong, Y. Yeh, D. Niu, 2019, Molecular genetics and metabolism reports.

Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement

Wan-Yuo Guo, T. Wong, D. Niu, 2002, Child's Nervous System.

Prevalence of lower urinary tract symptoms in children with early‐treated infantile‐onset Pompe disease: A single‐centre cross‐sectional study

D. Niu, Chia-Feng Yang, Yu-Hua Fan, 2022, Neurourology and urodynamics.

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

Yen-Yin Chou, P. Su, Hsiang-Yu Lin, 2021, Journal of Personalized Medicine.

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population

K. Hsiao, Ying Liang, D. Niu, 2014, Journal of Human Genetics.

Comparison of the Survival Difference Between AJCC 6th and 7th Editions for Gastric Cancer Patients

S. Chiou, Kuo-Hung Huang, W. Fang, 2011, World Journal of Surgery.

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Wen-Chung Yu, Hsiang-Yu Lin, S. Sung, 2014, Orphanet Journal of Rare Diseases.

Rapid enlargement of a residual craniopharyngioma during short-term growth hormone replacement

T. Wong, D. Niu, W. Guo, 2002, Child's Nervous System.

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

D. Niu, S. Kao, Hui-Chen Ho, 2022, Journal of Medical Genetics.

Comparison of hypothalamopituitary axis dysfunction of intrasellar and third ventricular craniopharyngiomas in children

Yi-Wei Chen, Kai-Ping Chang, Yi-Yen Lee, 2008, Brain and Development.

A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis

D. Niu, A. Tekin, Z. Kaya, 2014, Pediatric blood & cancer.

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

M. Ho, Y. Chien, W. Hwu, 2019, Orphanet Journal of Rare Diseases.

Airway abnormalities and pulmonary complications in long‐term treated late‐onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy

W. Soong, D. Niu, Chia-Feng Yang, 2021, Pediatric pulmonology.

Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene

K. Hsiao, C.-H. Chen, D. Niu, 1996, Human Genetics.

Clinical features of osteogenesis imperfecta in Taiwan.

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2009, Journal of the Formosan Medical Association = Taiwan yi zhi.

Clinical Features of Osteogenesis Imperfecta

Shuan-Pei Lin, C. Chuang, D. Niu, 2009 .

Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan

Y. Chien, K. Hsiao, Shuan-Pei Lin, 2014, Biochemical Genetics.

Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.

Hsiang-Yu Lin, Shuan-Pei Lin, C. Chuang, 2010, Human genetics.

Diagnosis of Congenital Hypothyroidism from Human Anagen Scalp Hair by Infrared Microspectroscopy

D. Niu, Yih-Dih Cheng, Shan-Yang Lin, 2001, Ultrastructural pathology.

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

J. Oliveira, J. Politei, R. Hopkin, 2020, Clinical kidney journal.

Association of Fabry Disease with Hearing Loss, Tinnitus, and Sudden Hearing Loss: A Nationwide Population-Based Study

Herng‐Ching Lin, S. Xirasagar, D. Niu, 2022, Journal of clinical medicine.

Response to Juang et al.

Chia-Lin Hsu, D. Niu, I. Dzhagalov, 2019, Genetics in Medicine.

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients

Wen-Chung Yu, Yen-Feng Wang, S. Hung, 2018, Genetics in Medicine.

When is the best time to start enzyme replacement therapy in patients with cardiac-type Fabry disease? Experience from Taiwan, an area highly prevalent in this cardiac phenotype

Wen-Chung Yu, S. Sung, D. Niu, 2015 .

Safety and long‐term outcomes of early liver transplantation for pediatric methylmalonic acidemia patients

D. Niu, C. Loong, N. Lin, 2022, Pediatric Transplantation.

Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

Chih-ping Chen, Y. Chien, W. Hwu, 2013, Journal of Inherited Metabolic Disease.

Contribution of genetic factors to neonatal transient hypothyroidism

T. Jap, D. Niu, C.-Y. Lin, 2004, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests

Yung-Yang Lin, K. Liao, Zin-An Wu, 2004, Brain and Development.

Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery.

Tsai-Chu Yeh, Chih-Chien Hsu, D. Niu, 2023, Cornea.

Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy

S. Tai, W. Soong, D. Niu, 2020, American journal of medical genetics. Part A.

AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients.

D. Niu, Chun-kai Huang, Hsuan-Chieh Liao, 2015 .