Dau-Ming Niu

Dau-Ming Niu

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Dau-Ming Niu

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

Am J Med Genet A 2020 Apr 18;182(4):721-729. Epub 2020 Jan 18.

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

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http://dx.doi.org/10.1002/ajmg.a.61481DOI Listing
April 2020

Response to Juang et al.

Genet Med 2019 08 22;21(8):1892-1893. Epub 2019 Jan 22.

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

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http://www.nature.com/articles/s41436-019-0437-x
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http://dx.doi.org/10.1038/s41436-019-0437-xDOI Listing
August 2019

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

Pediatr Neonatol 2019 06 23;60(3):342-343. Epub 2018 Aug 23.

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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https://linkinghub.elsevier.com/retrieve/pii/S18759572183027
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http://dx.doi.org/10.1016/j.pedneo.2018.08.005DOI Listing
June 2019

Fabry disease: Review and experience during newborn screening.

Trends Cardiovasc Med 2018 05 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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https://linkinghub.elsevier.com/retrieve/pii/S10501738173016
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http://dx.doi.org/10.1016/j.tcm.2017.10.001DOI Listing
May 2018

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

Mol Genet Metab 2018 02 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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http://dx.doi.org/10.1016/j.ymgme.2017.06.002DOI Listing
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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http://dx.doi.org/10.1097/MD.0000000000008415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682794PMC
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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175929PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400244PMC
September 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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http://dx.doi.org/10.1016/j.ijcard.2017.01.009DOI Listing
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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http://dx.doi.org/10.1016/j.bbrc.2017.03.030DOI Listing
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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http://dx.doi.org/10.1016/j.jcma.2016.07.006DOI Listing
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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http://dx.doi.org/10.1016/j.cca.2017.01.018DOI Listing
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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http://dx.doi.org/10.1177/0883073816665549DOI Listing
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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http://dx.doi.org/10.1016/j.jacc.2016.09.943DOI Listing
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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http://dx.doi.org/10.1016/j.cjca.2015.10.033DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2016.07.003DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2016.05.009DOI Listing
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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http://dx.doi.org/10.1016/j.ymgmr.2016.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834679PMC
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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http://dx.doi.org/10.1111/dmcn.12889DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2016.02.003DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S00223476150131
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http://dx.doi.org/10.1016/j.jpeds.2015.10.078DOI Listing
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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http://dx.doi.org/10.1016/j.jacl.2014.11.011DOI Listing
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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http://dx.doi.org/10.1016/j.cca.2015.11.023DOI Listing
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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http://dx.doi.org/10.1016/j.clnu.2014.11.013DOI Listing
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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http://dx.doi.org/10.1186/s13023-015-0370-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666204PMC
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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http://dx.doi.org/10.1097/MCG.0000000000000264DOI Listing
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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http://dx.doi.org/10.4187/respcare.03419DOI Listing
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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http://dx.doi.org/10.1016/j.jfma.2010.12.004DOI Listing
November 2014

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Biochem Genet 2014 Oct 27;52(9-10):415-29. Epub 2014 May 27.

Department of Education and Research, Taipei City Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1007/s10528-014-9657-6DOI Listing
October 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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https://linkinghub.elsevier.com/retrieve/pii/S17264901140016
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http://dx.doi.org/10.1016/j.jcma.2014.06.010DOI Listing
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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http://dx.doi.org/10.1002/pbc.24934DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.36567DOI Listing
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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http://dx.doi.org/10.1016/j.jcma.2013.11.006DOI Listing
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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http://dx.doi.org/10.1016/j.diabres.2013.12.058DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S00098981140004
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http://dx.doi.org/10.1016/j.cca.2014.01.030DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2014.02.003DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2014.02.004DOI Listing
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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http://dx.doi.org/10.1002/ppul.22774DOI Listing
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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http://www.nature.com/articles/jhg2013136
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http://dx.doi.org/10.1038/jhg.2013.136DOI Listing
March 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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https://linkinghub.elsevier.com/retrieve/pii/S00098981130034
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http://dx.doi.org/10.1016/j.cca.2013.09.008DOI Listing
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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http://dx.doi.org/10.1038/pr.2013.36DOI Listing
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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http://dx.doi.org/10.1186/1750-1172-8-71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698009PMC
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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http://dx.doi.org/10.1002/pros.22530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867924PMC
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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http://dx.doi.org/10.1016/j.gene.2012.07.057DOI Listing
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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http://dx.doi.org/10.1038/labinvest.2012.86DOI Listing
September 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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http://dx.doi.org/10.1111/j.1399-3046.2010.01385.xDOI Listing
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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http://link.springer.com/10.1007/s00268-011-1275-4
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http://dx.doi.org/10.1007/s00268-011-1275-4DOI Listing
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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http://dx.doi.org/10.1159/000327084DOI Listing
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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http://link.springer.com/10.1007/s00268-011-1247-8
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http://dx.doi.org/10.1007/s00268-011-1247-8DOI Listing
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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http://linkinghub.elsevier.com/retrieve/pii/S038776041100206
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http://dx.doi.org/10.1016/j.braindev.2011.07.009DOI Listing
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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http://dx.doi.org/10.1016/j.jfma.2011.09.010DOI Listing
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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http://linkinghub.elsevier.com/retrieve/pii/S038776041100140
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http://dx.doi.org/10.1016/j.braindev.2011.05.006DOI Listing
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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http://link.springer.com/10.1007/s00223-011-9465-5
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http://dx.doi.org/10.1007/s00223-011-9465-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075400PMC
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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http://dx.doi.org/10.1038/jhg.2010.121DOI Listing
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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http://dx.doi.org/10.1002/ppul.21309DOI Listing
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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http://dx.doi.org/10.1007/s10545-010-9212-5DOI Listing
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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http://link.springer.com/10.1007/s10545-010-9129-z
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http://dx.doi.org/10.1007/s10545-010-9129-zDOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.33629DOI Listing
October 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):466

Department of Pediatrics, Taipei Veterans General Hospital, 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):465

Department of Pediatrics, Taipei Veterans General Hospital, 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):465

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

View Article

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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