Dau-Ming Niu

Dau-Ming Niu

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Dau-Ming Niu

Dau-Ming Niu

Publications by authors named "Dau-Ming Niu"

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100Publications

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Fabry disease: Review and experience during newborn screening.

Trends Cardiovasc Med 2018 May 20;28(4):274-281. Epub 2017 Oct 20.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine and Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address:

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May 2018

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:

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February 2018

Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.

Medicine (Baltimore) 2017 Nov;96(44):e8415

aDepartment of Radiology bDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

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November 2017

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

PLoS One 2017 21;12(4):e0175929. Epub 2017 Apr 21.

Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan.

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September 2017

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

Clin Chem 2017 Jul 27;63(7):1271-1277. Epub 2017 Apr 27.

Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA.

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July 2017

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:

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April 2017

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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April 2017

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:

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April 2017

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.

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March 2017

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

J Child Neurol 2016 12 21;31(14):1617-1621. Epub 2016 Sep 21.

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan

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December 2016

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:

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December 2016

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

Can J Cardiol 2016 10 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:

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October 2016

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:

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September 2016

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

Mol Genet Metab 2016 08 14;118(4):319-25. Epub 2016 May 14.

Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK. Electronic address:

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August 2016

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

Mol Genet Metab Rep 2016 06 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.

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June 2016

Functional independence of Taiwanese children with Down syndrome.

Dev Med Child Neurol 2016 05 2;58(5):502-7. Epub 2015 Sep 2.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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May 2016

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:

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April 2016

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:

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February 2016

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:

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January 2016

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

Clin Chim Acta 2016 Jan 24;453:13-20. Epub 2015 Nov 24.

Department of Education and Research, Taipei City Hospital, Taipei, Taiwan. Electronic address:

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January 2016

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:

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December 2015

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Orphanet J Rare Dis 2015 Dec 1;10:152. Epub 2015 Dec 1.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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December 2015

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.

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March 2015

Late-onset Pompe disease with left-sided bronchomalacia.

Respir Care 2015 Feb 14;60(2):e26-9. Epub 2014 Oct 14.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

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February 2015

Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.

J Formos Med Assoc 2014 Nov 13;113(11):857-61. Epub 2012 Mar 13.

Department of Pediatrics, Chung Shan Medical University Hospital, Tainan, Taiwan; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan. Electronic address:

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November 2014

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

J Chin Med Assoc 2014 Oct 5;77(10):548-51. Epub 2014 Aug 5.

Department of Anesthesiology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC. Electronic address:

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October 2014

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

Pediatr Blood Cancer 2014 Aug 16;61(8):1457-9. Epub 2014 Jan 16.

Pediatric Hematology, Department of Pediatrics, Medical School of Gazi University, Ankara, Turkey.

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August 2014

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

Am J Med Genet A 2014 Aug 8;164A(8):2114-7. Epub 2014 Apr 8.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

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August 2014

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:

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April 2014

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

Diabetes Res Clin Pract 2014 Apr 8;104(1):e29-32. Epub 2014 Jan 8.

Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC. Electronic address:

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April 2014

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:

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April 2014

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:

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April 2014

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

Mol Genet Metab 2014 Apr 17;111(4):507-12. Epub 2014 Feb 17.

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:

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April 2014

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.

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March 2014

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.

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March 2014

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

Orphanet J Rare Dis 2014 Feb 10;9:21. Epub 2014 Feb 10.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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February 2014

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.

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November 2013

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

Pediatr Res 2013 May 15;73(5):685-91. Epub 2013 Feb 15.

Institutes of Clinical Medicine, College of Medicine, National Yang-Ming University, Taipei, Taiwan.

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May 2013

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

Orphanet J Rare Dis 2013 May 11;8:71. Epub 2013 May 11.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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May 2013

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

Prostate 2012 Dec 26;72(16):1767-78. Epub 2012 Apr 26.

Division of Medicinal Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio 43210, USA.

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December 2012

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

Gene 2012 Nov 14;509(1):154-7. Epub 2012 Aug 14.

Institute of Biomedical Sciences, National Chung Hsing University, Taichung, Taiwan.

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November 2012

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

Lab Invest 2012 Sep 2;92(9):1260-9. Epub 2012 Jul 2.

Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan.

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September 2012

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

Blood Cells Mol Dis 2012 Aug 30;49(2):114-7. Epub 2012 May 30.

Department of Pediatrics, Taipei Veterans General Hospital, Taiwan, ROC.

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August 2012

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

Mol Genet Metab 2012 Apr 1;105(4):590-5. Epub 2012 Feb 1.

Department of Pediatrics, Taipei Veterans General Hospital Taipei, Taiwan.

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April 2012

Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome.

Pediatr Transplant 2012 Feb 1;16(1):E25-9. Epub 2010 Sep 1.

Division of Pediatric Surgery, Taipei Veterans General Hospital, Taiwan.

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February 2012

Comparison of the survival difference between AJCC 6th and 7th editions for gastric cancer patients.

World J Surg 2011 Dec;35(12):2723-9

Division of General Surgery, Department of Surgery, Taipei Veterans General Hospital, 201 Section 2, Shih-Pai Road, Taipei, 11217, Taiwan.

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December 2011

Idiopathic calcinosis cutis in a child: chemical composition of the calcified deposits.

Dermatology 2011 30;222(3):201-5. Epub 2011 Apr 30.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.

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November 2011

Factors associated with recurrence within 2 years after curative surgery for gastric adenocarcinoma.

World J Surg 2011 Nov;35(11):2472-8

Division of General Surgery, Department of Surgery, Taipei Veterans General Hospital, 201 Section 2 Shih-Pai Road, Taipei, 11217, Taiwan.

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November 2011

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

Authors:
Dau-Ming Niu

Brain Dev 2011 Nov 30;33(10):847-55. Epub 2011 Aug 30.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

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November 2011

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

J Formos Med Assoc 2011 Nov 20;110(11):719-23. Epub 2011 Oct 20.

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Number 92, Section 2 Chung-Shan North Road, Taipei, Taiwan.

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November 2011

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

Authors:
Dau-Ming Niu

Brain Dev 2011 Jun 21. Epub 2011 Jun 21.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.

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June 2011

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

Calcif Tissue Int 2011 May 4;88(5):370-7. Epub 2011 Feb 4.

Section of Biochemistry, Department of Pathology and Laboratory Medicine, Division of Metabolism, Taipei Veterans General Hospital, Taiwan 112, Taiwan, ROC.

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May 2011

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

J Hum Genet 2011 Jan 30;56(1):8-11. Epub 2010 Sep 30.

Institute of Biotechnology and Graduate Program of Biotechnology in Medicine, National Tsing-Hua University, Hsinchu, Taiwan.

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January 2011

Polysomnographic characteristics in patients with mucopolysaccharidoses.

Pediatr Pulmonol 2010 Dec 17;45(12):1205-12. Epub 2010 Aug 17.

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.

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December 2010

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.

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December 2010

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

J Inherit Metab Dis 2010 Oct 22;33(Suppl 2):S295-305. Epub 2010 Jun 22.

Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No.155, Sec.2, Linong Street, Taipei, Taiwan.

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October 2010

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.

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October 2010

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.

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August 2010

TLR2 agonists enhance CD8+Foxp3+ regulatory T cells and suppress Th2 immune responses during allergen immunotherapy.

J Immunol 2010 Jun 7;184(12):7229-37. Epub 2010 May 7.

Department of Pediatrics, Changhua Christian Hospital and Institute of Clinical Medicine, National Ynag-Ming University, Taipei, Taiwan, Republic of China.

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June 2010

Domino liver graft from a patient with homozygous familial hypercholesterolemia.

Pediatr Transplant 2010 May 10;14(3):E30-3. Epub 2009 Mar 10.

Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan.

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May 2010

Severe hyponatremia due to ACTH insufficiency in a 14 year-old girl with growth hormone deficiency.

J Pediatr Endocrinol Metab 2010 Jan-Feb;23(1-2):197-201

Department of Pediatrics, Lo-Tung St. Mary's Hospital, Taipei, Taiwan.

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May 2010

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

Hum Genet 2010 Apr;127(4):465

Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan, ROC.

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April 2010

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

Hum Genet 2010 Apr;127(4):464

Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan, ROC.

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April 2010

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

Hum Genet 2010 Apr;127(4):464

Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan, ROC.

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April 2010

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

Pediatr Neonatol 2010 Feb;51(1):61-4

Department of Pediatrics, Lo-Tung Pohai Hospital, Ilan, Taiwan.

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February 2010

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Hum Genet 2010 Jan;127(1):122-3

Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Sec. 2, Chung-Shan North Road, No.92, 10449, Taipei, Taiwan ROC.

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January 2010

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Hum Genet 2010 Jan;127(1):122

Department of Pediatrics, Taipei Veterans General Hospital, Sec. 2, Shih-Pai Road, No. 201, 112, Taipei, Taiwan ROC.

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January 2010

Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.

Hum Genet 2010 Jan;127(1):124

Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Sec. 2, Chung-Shan North Road, 92, 10449, Taipei, Taiwan ROC.

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January 2010

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

J Clin Endocrinol Metab 2009 Dec 16;94(12):5045-52. Epub 2009 Oct 16.

Institute of Clinical Medicine, National Yang-Ming University, Taipei 112, Taiwan.

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December 2009

Extreme hypernatremia combined with rhabdomyolysis and acute renal failure.

J Chin Med Assoc 2009 Oct;72(10):555-8

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.

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October 2009

Growth hormone therapy in neonatal patients with methylmalonic acidemia.

J Chin Med Assoc 2009 Sep;72(9):462-7

Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan, ROC.

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September 2009

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

Pediatr Int 2009 Aug;51(4):453-9

Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan.

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August 2009

Clinical features of osteogenesis imperfecta in Taiwan.

J Formos Med Assoc 2009 Jul;108(7):570-6

Department of Pediatrics, Mackay Memorial Hospital, Mackay Medicine, Nursing and Management College, National Yang-Ming University, Taipei, Taiwan.

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July 2009