Publications by authors named "Wuh-Liang Hwu"

100Publications

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan.

Int J Neonatal Screen 2020 Jun 1;6(2):30. Epub 2020 Apr 1.

Department of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan; (S.-C.C.); (K.-L.C.); (N.-C.L.); (W.-L.H.).

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http://dx.doi.org/10.3390/ijns6020030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422994PMC
June 2020

Development of Newborn Screening for Pompe Disease.

Int J Neonatal Screen 2020 Mar 24;6(1). Epub 2020 Jan 24.

Department of Pediatrics, National Taiwan University Hospital, Taipei 10041, Taiwan;

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http://dx.doi.org/10.3390/ijns6010005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422982PMC
March 2020

CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening.

Genet Med 2020 Oct 9. Epub 2020 Oct 9.

Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1038/s41436-020-00987-wDOI Listing
October 2020

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan.

Sci Rep 2020 Sep 3;10(1):14537. Epub 2020 Sep 3.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1038/s41598-020-71361-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7471922PMC
September 2020

Diversity in heritable disorders of connective tissue at a single center.

Connect Tissue Res 2020 Sep 8:1-6. Epub 2020 Sep 8.

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

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http://dx.doi.org/10.1080/03008207.2020.1816994DOI Listing
September 2020

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.

Mol Genet Genomic Med 2020 Aug 14:e1455. Epub 2020 Aug 14.

Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1002/mgg3.1455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549563PMC
August 2020

Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma.

J Nephrol 2020 10 27;33(5):1111-1113. Epub 2020 Jul 27.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1007/s40620-020-00813-1DOI Listing
October 2020

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Hum Mutat 2020 Jul 11. Epub 2020 Jul 11.

Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1002/humu.24080DOI Listing
July 2020

Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort.

Am J Med Genet B Neuropsychiatr Genet 2020 09 9;183(6):352-359. Epub 2020 Jul 9.

Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.

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http://dx.doi.org/10.1002/ajmg.b.32810DOI Listing
September 2020

Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant.

Blood Cells Mol Dis 2020 03 2;81:102402. Epub 2020 Jan 2.

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.102402DOI Listing
March 2020

Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in Down Syndrome.

ACS Chem Neurosci 2020 01 23;11(2):191-196. Epub 2019 Dec 23.

Department of Neurology , National Taiwan University Hospital, College of Medicine, National Taiwan University , Taipei 100 , Taiwan.

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http://dx.doi.org/10.1021/acschemneuro.9b00585DOI Listing
January 2020

Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing.

Leg Med (Tokyo) 2020 Feb 25;42:101631. Epub 2019 Oct 25.

Forensic Biology Division, Criminal Investigation Bureau, National Police Administration, No. 5 Lane 553, Sec. 4, Zhongxiao E. RD., Xinyi District, Taipei 110, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.legalmed.2019.101631DOI Listing
February 2020

Clinical features of Pompe disease with motor neuronopathy.

Neuromuscul Disord 2019 11 25;29(11):903-906. Epub 2019 Sep 25.

Department of Medical Genetics, National Taiwan University Hospital, Room 19005, 19F, Children's Hospital Building, 8 Chung-Shan South Road, Taipei 10041, Taiwan; Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.09.011DOI Listing
November 2019

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population.

Brain Behav 2019 10 16;9(10):e01414. Epub 2019 Sep 16.

Department of Neurology, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1002/brb3.1414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790309PMC
October 2019

Newborn screening: Taiwanese experience.

Ann Transl Med 2019 Jul;7(13):281

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.21037/atm.2019.05.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642927PMC
July 2019

REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample.

J Formos Med Assoc 2020 Jan 1;119(1 Pt 3):516-523. Epub 2019 Aug 1.

Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan; Center of Sleep Disorder, National Taiwan University Hospital, Taipei, Taiwan; Center for Electronics Technology Integration, National Taiwan University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2019.07.015DOI Listing
January 2020

Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center.

J Formos Med Assoc 2020 Jan 27;119(1 Pt 2):345-349. Epub 2019 Jun 27.

Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2019.06.003DOI Listing
January 2020

Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum.

Am J Med Genet A 2019 09 24;179(9):1878-1883. Epub 2019 Jun 24.

Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1002/ajmg.a.61276DOI Listing
September 2019

Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency.

Ann Neurol 2019 05 2;85(5):644-652. Epub 2019 Apr 2.

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

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http://dx.doi.org/10.1002/ana.25467DOI Listing
May 2019

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Orphanet J Rare Dis 2019 01 7;14(1). Epub 2019 Jan 7.

Department of Medical Genetics, National Taiwan University Hospital, No. 8, Chung-Shan S. Rd., Zhongzheng Dist., Taipei, 10041, Taiwan.

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http://dx.doi.org/10.1186/s13023-018-0992-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323711PMC
January 2019

A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.

Am J Med Genet C Semin Med Genet 2019 06 7;181(2):226-229. Epub 2019 Jan 7.

Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://doi.wiley.com/10.1002/ajmg.c.31670
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http://dx.doi.org/10.1002/ajmg.c.31670DOI Listing
June 2019

Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency.

J Microbiol Immunol Infect 2019 Jun 31;52(3):504-506. Epub 2018 Aug 31.

Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jmii.2018.04.009DOI Listing
June 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

Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.

Lancet Child Adolesc Health 2017 Dec 23;1(4):265-273. Epub 2017 Oct 23.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S23524642173012
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http://dx.doi.org/10.1016/S2352-4642(17)30125-6DOI Listing
December 2017

Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs.

Pediatr Neonatol 2019 02 13;60(1):102-104. Epub 2018 Apr 13.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2018.04.002DOI Listing
February 2019

Congenital generalized lipodystrophy in Taiwan.

J Formos Med Assoc 2019 Jan 1;118(1 Pt 1):142-147. Epub 2018 Mar 1.

Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2018.02.003DOI Listing
January 2019

Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan.

Pediatr Diabetes 2018 06 31;19(4):699-706. Epub 2018 Jan 31.

Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.

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http://dx.doi.org/10.1111/pedi.12645DOI Listing
June 2018

SHOX deficiency in short Taiwanese children: A single-center experience.

J Formos Med Assoc 2018 Oct 16;117(10):909-914. Epub 2017 Dec 16.

Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2017.11.014DOI Listing
October 2018

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Pediatrics 2017 Jul;140(Suppl 1):S24-S45

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0280EDOI Listing
July 2017

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.

Pediatrics 2017 Jul;140(Suppl 1):S14-S23

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0280DDOI Listing
July 2017

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.

Pediatrics 2017 07;140(Suppl 1):S1-S3

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

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http://dx.doi.org/10.1542/peds.2016-0280BDOI Listing
July 2017

Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10.

Oncotarget 2017 Oct 6;8(46):80429-80442. Epub 2017 Jul 6.

Institute of Biochemical Sciences, National Taiwan University, Taipei, Taiwan.

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http://dx.doi.org/10.18632/oncotarget.19035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655209PMC
October 2017

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.

Mol Neurobiol 2018 Jun 11;55(6):5299-5309. Epub 2017 Sep 11.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, 10041, Taiwan.

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http://dx.doi.org/10.1007/s12035-017-0763-4DOI Listing
June 2018

Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.

JIMD Rep 2018 31;40:1-6. Epub 2017 Aug 31.

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

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http://dx.doi.org/10.1007/8904_2017_54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122029PMC
August 2017

A Review of Biomarkers for Alzheimer's Disease in Down Syndrome.

Neurol Ther 2017 Jul 21;6(Suppl 1):69-81. Epub 2017 Jul 21.

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

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http://dx.doi.org/10.1007/s40120-017-0071-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520817PMC
July 2017

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.

J Pediatr 2017 11 12;190:124-129.e1. Epub 2017 Jul 12.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.06.042DOI Listing
November 2017

Gene therapy with modified U1 small nuclear RNA.

Expert Rev Endocrinol Metab 2017 May 13;12(3):171-175. Epub 2017 Apr 13.

a Department of Pediatrics and Medical Genetics , National Taiwan University Hospital and National Taiwan University College of Medicine , Taipei , Taiwan.

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http://dx.doi.org/10.1080/17446651.2017.1316191DOI Listing
May 2017

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

J Formos Med Assoc 2018 Feb 6;117(2):126-131. Epub 2017 Apr 6.

Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2017.03.008DOI Listing
February 2018

Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.

Mol Genet Metab 2017 05 24;121(1):22-27. Epub 2017 Mar 24.

Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.03.005DOI Listing
May 2017

Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer's Disease.

Front Aging Neurosci 2016 17;8:316. Epub 2017 Jan 17.

Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan UniversityTaipei, Taiwan; Graduate Institute of Brain and Mind Sciences, College of Medicine, National Taiwan UniversityTaipei, Taiwan; Department of Psychology, National Taiwan UniversityTaipei, Taiwan; Graduate Institute of Biomedical Engineering and Bioinformatics, National Taiwan UniversityTaipei, Taiwan.

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http://dx.doi.org/10.3389/fnagi.2016.00316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5239773PMC
January 2017

Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

Eur J Paediatr Neurol 2017 May 19;21(3):485-493. Epub 2016 Dec 19.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.12.004DOI Listing
May 2017

Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.

Hum Mol Genet 2016 12;25(23):5142-5147

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1093/hmg/ddw323DOI Listing
December 2016

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

Mol Genet Metab 2016 08 16;118(4):259-63. Epub 2016 May 16.

Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

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http://dx.doi.org/10.1016/j.ymgme.2016.05.011DOI 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

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

Integrated care for Down syndrome.

Congenit Anom (Kyoto) 2016 May;56(3):104-6

Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1111/cga.12159DOI Listing
May 2016

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.

Hum Mol Genet 2016 Feb 8;25(4):631-41. Epub 2015 Dec 8.

Department of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan.

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http://hmg.oxfordjournals.org/content/early/2016/01/03/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
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http://dx.doi.org/10.1093/hmg/ddv500DOI Listing
February 2016

Long-term outcome for Down syndrome patients with hematopoietic disorders.

J Formos Med Assoc 2016 Feb 30;115(2):94-9. Epub 2015 Jul 30.

Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2015.01.009DOI Listing
February 2016

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

Mol Ther 2015 Oct 3;23(10):1572-81. Epub 2015 Jul 3.

Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1038/mt.2015.122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817920PMC
October 2015

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population.

J Formos Med Assoc 2015 Jan 3;114(1):12-6. Epub 2013 Jan 3.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2012.10.020DOI Listing
January 2015

Congenital malformations in newborns--a challenge unmet for decades.

Pediatr Neonatol 2015 Feb 25;56(1):5-6. Epub 2014 Nov 25.

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

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http://dx.doi.org/10.1016/j.pedneo.2014.11.002DOI Listing
February 2015

Mutant in Taiwanese Patients with Multiple Hereditary Exostoses.

Biomedicine (Taipei) 2014 1;4:11. Epub 2014 Aug 1.

Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan ; Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan ; School of Chinese Medicine, China Medical University, Taichung, Taiwan ; Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, China Medical University Hospital, No. 2, Yuh Der Road, 404 Taichung, Taiwan.

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http://dx.doi.org/10.7603/s40681-014-0011-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265008PMC
August 2014

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

J Pediatr 2015 Apr 4;166(4):985-91.e1-2. Epub 2014 Nov 4.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.10.068DOI Listing
April 2015

Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.

JIMD Rep 2014 12;17:71-5. Epub 2014 Sep 12.

Department of Pediatrics, Soonchunhyang University Hospital, Seoul, South Korea.

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http://dx.doi.org/10.1007/8904_2014_339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241200PMC
November 2014

Outcome of early-treated type III Gaucher disease patients.

Blood Cells Mol Dis 2014 Sep 28;53(3):105-9. Epub 2014 Jun 28.

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2014.05.007DOI Listing
September 2014

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease.

Muscle Nerve 2014 Aug 14;50(2):301-2. Epub 2014 Jul 14.

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

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http://dx.doi.org/10.1002/mus.24257DOI Listing
August 2014

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

Clin Chim Acta 2014 Apr 7;431:19-22. Epub 2014 Feb 7.

Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.01.034DOI Listing
April 2014

Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.

Pediatr Neonatol 2014 Aug 31;55(4):306-11. Epub 2014 Jan 31.

Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan; Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2013.12.001DOI Listing
August 2014

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathol Commun 2014 Jan 2;2. Epub 2014 Jan 2.

Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/2051-5960-2-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892035PMC
January 2014

Parental discussion of G6PD deficiency and child health: implications for clinical practice.

Arch Dis Child 2014 Mar 29;99(3):251-5. Epub 2013 Nov 29.

Department of Health, Behavior and Society, Johns Hopkins Center for Genomic Literacy and Communication, Johns Hopkins Bloomberg School of Public Health, , Baltimore, USA.

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http://dx.doi.org/10.1136/archdischild-2013-304867DOI Listing
March 2014

Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.

Hum Gene Ther 2014 Mar 7;25(3):189-98. Epub 2014 Jan 7.

1 Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine , Taipei 10041, Taiwan .

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http://www.liebertpub.com/doi/10.1089/hum.2013.170
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http://dx.doi.org/10.1089/hum.2013.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955971PMC
March 2014

AADC deficiency: occurring in humans, modeled in rodents.

Adv Pharmacol 2013 ;68:273-84

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-411512-5.00013-0DOI Listing
May 2014

Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism.

Pediatr Nephrol 2014 Jan 8;29(1):111-6. Epub 2013 Sep 8.

Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, 7 Chung-Shan South Road, Taipei, 10016, Taiwan.

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http://dx.doi.org/10.1007/s00467-013-2609-2DOI Listing
January 2014

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

Ann Lab Med 2013 Jul 24;33(4):274-8. Epub 2013 Jun 24.

Division of Clinical and Translational Genetics, Department of Human Genetics, University of Miami-Miller School of Medicine, 1501 NW 10th Ave, Miami, FL 33136, USA.

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http://dx.doi.org/10.3343/alm.2013.33.4.274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698306PMC
July 2013

Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.

J Med Internet Res 2013 May 23;15(5):e98. Epub 2013 May 23.

National Taiwan University, Graduate Institute of Biomedical Electronics and Bioinformatics, Taipei, Taiwan.

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http://dx.doi.org/10.2196/jmir.2495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668606PMC
May 2013

Fatty Acid oxidation disorders in a chinese population in taiwan.

JIMD Rep 2013 23;11:165-72. Epub 2013 May 23.

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

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http://dx.doi.org/10.1007/8904_2013_236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755561PMC
August 2013

Pompe disease: early diagnosis and early treatment make a difference.

Pediatr Neonatol 2013 Aug 28;54(4):219-27. Epub 2013 Apr 28.

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

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http://dx.doi.org/10.1016/j.pedneo.2013.03.009DOI Listing
August 2013

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion.

Mol Genet Metab 2013 Jun 10;109(2):231-2. Epub 2013 Apr 10.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.003DOI Listing
June 2013