Kwang-Jen Hsiao

Kwang-Jen Hsiao

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Kwang-Jen Hsiao

Kwang-Jen Hsiao

Publications by authors named "Kwang-Jen Hsiao"

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Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.

Clin Chim Acta 2019 Aug 22;495:271-277. Epub 2019 Apr 22.

Department of Education and Research, Taipei City Hospital, Taipei, Taiwan; Cancer Progression Research Center, National Yang-Ming University, Taipei, Taiwan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981193182
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http://dx.doi.org/10.1016/j.cca.2019.04.074DOI Listing
August 2019

Outcomes of neonatal jaundice in Taiwan.

Arch Dis Child 2018 10 22;103(10):927-929. Epub 2018 Feb 22.

Preventive Medicine Foundation, Taipei, Taiwan.

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http://dx.doi.org/10.1136/archdischild-2017-314063DOI Listing
October 2018

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

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Clin Chim Acta 2015 Jul 10;447:1-7. Epub 2015 May 10.

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India.

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http://dx.doi.org/10.1016/j.cca.2015.04.040DOI Listing
July 2015

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

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

The universal newborn hearing screening program of Taipei City.

Int J Pediatr Otorhinolaryngol 2013 Oct 21;77(10):1734-7. Epub 2013 Aug 21.

Department of Otolaryngology, Taipei City Hospital, Taipei, Taiwan; Department of Otolaryngology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2013.08.004DOI Listing
October 2013

Complexity of the Mycoplasma fermentans M64 genome and metabolic essentiality and diversity among mycoplasmas.

PLoS One 2012 3;7(4):e32940. Epub 2012 Apr 3.

Laboratory Science in Medicine, Department of Biotechnology, Institute of Biotechnology in Medicine, National Yang Ming University, Taipei, Taiwan, Republic of China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0032940PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317919PMC
August 2012

Genome sequence of the repetitive-sequence-rich Mycoplasma fermentans strain M64.

J Bacteriol 2011 Aug 3;193(16):4302-3. Epub 2011 Jun 3.

Institute of Biotechnology in Medicine, Department of Biotechnology and Laboratory Science in Medicine, National Yang Ming University, 155 Linong Street, Section 2, Taipei, Taiwan 112, Republic of China.

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http://jb.asm.org/cgi/doi/10.1128/JB.05228-11
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http://dx.doi.org/10.1128/JB.05228-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3147699PMC
August 2011

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan.

Clin Chim Acta 2011 Feb 3;412(5-6):460-5. Epub 2010 Dec 3.

Department of Medical Laboratory Science and Biotechnology, National Cheng Kung University, Tainan, Taiwan.

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http://dx.doi.org/10.1016/j.cca.2010.11.027DOI Listing
February 2011

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

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

J Hum Genet 2010 Sep 15;55(9):621-6. Epub 2010 Jul 15.

Institute of Genetics, National Yang-Ming University, Taipei, Taiwan.

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http://dx.doi.org/10.1038/jhg.2010.81DOI Listing
September 2010

Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

Ophthalmology 2010 Feb 6;117(2):392-6.e1. Epub 2009 Dec 6.

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

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http://dx.doi.org/10.1016/j.ophtha.2009.07.019DOI Listing
February 2010

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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http://dx.doi.org/10.1016/S1726-4901(09)70408-3DOI Listing
September 2009

External quality assurance programme for newborn screening of glucose-6-phosphate dehydrogenase deficiency.

Ann Acad Med Singapore 2008 Dec;37(12 Suppl):84-4

Department of Medical Research and Education, Taipei Veterans General Hospital, No. 201, Sec 2, Shih-Pai Rd, Taipei 112, Taiwan.

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December 2008

Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.

Biochem Biophys Res Commun 2008 Sep 30;373(4):515-20. Epub 2008 Jun 30.

Faculty of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.bbrc.2008.06.072DOI Listing
September 2008

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

Mol Genet Metab 2006 Feb 20;87(2):128-34. Epub 2005 Dec 20.

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

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http://dx.doi.org/10.1016/j.ymgme.2005.09.028DOI Listing
February 2006

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

J Hum Genet 2005 30;50(7):338-46. Epub 2005 Jul 30.

Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.

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http://dx.doi.org/10.1007/s10038-005-0262-8DOI Listing
January 2006

Neonatal screening and monitoring system in Taiwan.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:91-3

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC.

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July 2005

Quality assurance program for neonatal screening of glucose-6-phosphate dehydrogenase deficiency.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:130-4

Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.

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July 2005

Using the fluorescence spot test for neonatal screening of G6PD deficiency.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:140-2

Neonatal Screening Center, Maternal and Neonatal Hospital of Guangzhou, Guangzhou China.

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July 2005

Type II collagen gene variants and inherited osteonecrosis of the femoral head.

N Engl J Med 2005 Jun;352(22):2294-301

Institute of Genetics and Genome Research Center, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

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http://dx.doi.org/10.1056/NEJMoa042480DOI Listing
June 2005

Molecular epidemiology of severe acute respiratory syndrome-associated coronavirus infections in Taiwan.

J Infect Dis 2005 May 28;191(9):1478-89. Epub 2005 Mar 28.

AIDS Prevention and Research Centre, National Yang-Ming University, Taiwan, Republic of China.

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http://dx.doi.org/10.1086/428591DOI Listing
May 2005

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

World J Gastroenterol 2004 Feb;10(4):590-3

Department of Neurology, Xinhua Hospital, Shanghai Second Medical University, 1665 Kongjiang Rd, Shanghai 200092, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716986PMC
http://dx.doi.org/10.3748/wjg.v10.i4.590DOI Listing
February 2004

Antibody reactivity to HIV-1 Vpu in HIV-1/AIDS patients on highly active antiretroviral therapy.

J Biomed Sci 2003 Mar-Apr;10(2):266-75

AIDS Prevention and Research Center, School of Medicine, National Yang-Ming University, Taipei, Taiwan, ROC.

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http://dx.doi.org/10.1007/bf02256062DOI Listing
December 2003

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.

Mol Genet Metab 2003 Nov;80(3):356-9

Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University, Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.

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http://dx.doi.org/10.1016/S1096-7192(03)00140-9DOI Listing
November 2003

[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Zhonghua Er Ke Za Zhi 2003 Jan;41(1):35-8

Department of Pediatrics, Xinhua Hospital, Shanghai Second Medical University and Shanghai Institute for Pediatric Research, Shanghai 200092, China.

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January 2003

Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

Hum Genet 2002 Mar 5;110(3):235-43. Epub 2002 Feb 5.

Institute of Genetics, National Yang-Ming University, Taiwan, Republic of China.

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http://dx.doi.org/10.1007/s00439-002-0677-7DOI Listing
March 2002

Mutation analysis of synapsin III gene in schizophrenia.

Am J Med Genet 2002 Jan;114(1):79-83

Department of Psychiatry, Tzu Chi General Hospital and Tzu Chi University Medical School, Hualien City, Taiwan.

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http://dx.doi.org/10.1002/ajmg.10116DOI Listing
January 2002