Publications by authors named "Dau-Ming Niu"

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Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Mol Genet Metab 2018 Feb 8;123(2):140-147. Epub 2017 Jun 8.
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei City Hospital, Renai Branch, Taipei, Taiwan. Electronic address:


Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
Int J Cardiol 2017 Apr 5;232:255-263. Epub 2017 Jan 5.
Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Heath Care and Management Center, Taipei Veterans General Hospital, Taipei, Taiwan; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
J Chin Med Assoc 2017 Apr 13;80(4):253-261. Epub 2017 Mar 13.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan, ROC. Electronic address:

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.
Clin Chim Acta 2017 Mar 18;466:185-193. Epub 2017 Jan 18.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
J Am Coll Cardiol 2016 Dec;68(23):2554-2563
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Taiwan Clinical Trial Consortium in Fabry Disease, Taipei, Taiwan; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:

Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy.
Can J Cardiol 2016 Oct 10;32(10):1221.e1-1221.e9. Epub 2015 Nov 10.
School of Medicine, National Yang-Ming University, Taipei, Taiwan; Divison of Cardiology and Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.
Mol Genet Metab Rep 2016 Jun 18;7:63-9. Epub 2016 Apr 18.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
Mol Genet Metab 2016 Apr 16;117(4):431-7. Epub 2016 Feb 16.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
J Pediatr 2016 Feb 10;169:174-80.e1. Epub 2015 Dec 10.
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address:

Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
Clin Nutr 2015 Dec 3;34(6):1155-8. Epub 2014 Dec 3.
Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. Electronic address:

R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.
J Clin Gastroenterol 2015 Mar;49(3):256-7
*Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University †Department of Internal Medicine, Division of Gastroenterology and Hepatology Taipei Medical University Hospital ‡Faculty of Medicine, School of Medicine National Yang Ming University §Department of Pediatrics, Taipei Veterans General Hospital ∥Institute of Clinical Medicine, School of Medicine, National Yang Ming University, Taipei, Taiwan.



Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
J Chin Med Assoc 2014 Apr 30;77(4):190-7. Epub 2013 Dec 30.
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Taiwan Clinical Trial Consortium in Fabry Disease, ROC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. Electronic address:

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
Clin Chim Acta 2014 Apr 7;431:80-6. Epub 2014 Feb 7.
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Renai Branch, Taipei City Hospital, Taipei, Taiwan. Electronic address:

Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.
Mol Genet Metab 2014 Apr 16;111(4):533-8. Epub 2014 Feb 16.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment.
Pediatr Pulmonol 2014 Mar 8;49(3):277-84. Epub 2013 Feb 8.
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Early Infant Care and Education, Mackay Medicine, Nursing and Management College, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
J Hum Genet 2014 Mar 9;59(3):145-52. Epub 2014 Jan 9.
1] Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan [2] Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
Clin Chim Acta 2013 Nov 19;426:114-20. Epub 2013 Sep 19.
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Chinese Foundation of Health, Section of Newborn Screening Center, Taipei, Taiwan; Taiwan Clinical Trial Consortium in Fabry Disease, Taiwan.



Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan.
J Inherit Metab Dis 2010 Dec 6;33 Suppl 3:S421-7. Epub 2010 Oct 6.
Department of Pediatrics, Mackay Memorial Hospital, No 92, Sec 2 Chung-Shan North Road, Taipei 10449, Taiwan.

Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome.
Am J Med Genet A 2010 Oct;152A(10):2521-8
Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, and Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
J Inherit Metab Dis 2010 Aug 3;33(4):437-43. Epub 2010 Jun 3.
Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, No. 155, Sec. 2, Linong Street, Taipei, 112, Taiwan, Republic of China.




Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.
J Clin Lipidol 2015 Mar-Apr;9(2):234-40. Epub 2014 Dec 3.
Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, R.O.C; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C. Electronic address:


Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Mol Genet Metab 2016 09 12;119(1-2):8-13. Epub 2016 Jul 12.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy.
Biochem Biophys Res Commun 2017 04 12;486(2):293-299. Epub 2017 Mar 12.
School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. Electronic address:

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