Publications by authors named "Ni-Chung Lee"

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

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

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report.

eNeurologicalSci 2020 Dec 9;21:100271. Epub 2020 Sep 9.

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

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http://dx.doi.org/10.1016/j.ensci.2020.100271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493042PMC
December 2020

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

Sci Rep 2020 09 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

A Case of GNE Myopathy Mimicking Hereditary Motor Neuropathy.

Eur J Neurol 2020 Aug 28. Epub 2020 Aug 28.

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

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http://dx.doi.org/10.1111/ene.14489DOI Listing
August 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

Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification.

Mov Disord 2020 08 5;35(8):1457-1462. Epub 2020 May 5.

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

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http://dx.doi.org/10.1002/mds.28079DOI Listing
August 2020

UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.

J Microbiol Immunol Infect 2020 Apr 11. Epub 2020 Apr 11.

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

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http://dx.doi.org/10.1016/j.jmii.2020.04.001DOI Listing
April 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

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

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.

J Formos Med Assoc 2020 Jan 29;119(1 Pt 3):406-412. Epub 2019 Jul 29.

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

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http://dx.doi.org/10.1016/j.jfma.2019.07.017DOI 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

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

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

NPJ Genom Med 2018 6;3:19. Epub 2018 Aug 6.

Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.

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http://dx.doi.org/10.1038/s41525-018-0056-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079040PMC
August 2018

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

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

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

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

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

Reply to: "Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions".

J Formos Med Assoc 2017 10 27;116(10):821-822. Epub 2017 Mar 27.

Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2017.03.005DOI Listing
October 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

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

BMC Neurol 2017 Jan 6;17(1). Epub 2017 Jan 6.

Department of Neurology, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei, 100, Taiwan.

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http://bmcneurol.biomedcentral.com/articles/10.1186/s12883-0
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http://dx.doi.org/10.1186/s12883-016-0781-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216594PMC
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

Russell-Silver syndrome presenting with ambiguous genitalia.

J Formos Med Assoc 2017 08 18;116(8):645-646. Epub 2016 Dec 18.

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

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http://dx.doi.org/10.1016/j.jfma.2016.11.003DOI Listing
August 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

Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia.

J Formos Med Assoc 2016 Nov 26;115(11):1012-1014. Epub 2016 Jul 26.

Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2016.04.010DOI Listing
November 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

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

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

Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia.

J Formos Med Assoc 2016 Sep 26;115(9):801-6. Epub 2015 Sep 26.

Department of Laboratory Medicine, National Taiwan University Hospital, and College of Medicine, National Taiwan University, Taipei, Taiwan; 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.2015.08.002DOI Listing
September 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

Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.

Am J Med Genet A 2015 Jun 9;167(6):1285-8. Epub 2015 Apr 9.

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

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http://dx.doi.org/10.1002/ajmg.a.37053DOI Listing
June 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

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

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

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

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

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.

BMC Med Genet 2013 Feb 10;14:24. Epub 2013 Feb 10.

Graduate Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-14-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575349PMC
February 2013

Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.

J Child Neurol 2013 Mar 9;28(3):404-8. Epub 2013 Jan 9.

Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

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http://dx.doi.org/10.1177/0883073812469722DOI Listing
March 2013

Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.

Neurobiol Dis 2013 Apr 26;52:177-90. Epub 2012 Dec 26.

Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine: 8 Chung-Shan South Road, Taipei 10041, Taiwan.

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http://dx.doi.org/10.1016/j.nbd.2012.12.005DOI Listing
April 2013

Promising outcomes in glutaric aciduria type I patients detected by newborn screening.

Metab Brain Dis 2013 Mar 27;28(1):61-7. Epub 2012 Oct 27.

Department of 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/10.1007/s11011-012-9349-zDOI Listing
March 2013

Serial cytokine expressions in infants with incontinentia pigmenti.

Immunobiology 2013 May 5;218(5):772-9. Epub 2012 Sep 5.

Department of Pediatrics, Chang Gung Memorial Hospital at Keelung, Taiwan.

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http://dx.doi.org/10.1016/j.imbio.2012.08.280DOI Listing
May 2013

A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.

Pediatr Neonatol 2012 Aug 20;53(4):264-8. Epub 2012 Jul 20.

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

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http://dx.doi.org/10.1016/j.pedneo.2011.08.013DOI Listing
August 2012

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Genet Med 2013 Feb 16;15(2):106-14. Epub 2012 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://www.nature.com/articles/gim2012104
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http://dx.doi.org/10.1038/gim.2012.104DOI Listing
February 2013

An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery.

Genet Vaccines Ther 2012 Jun 18;10(1). Epub 2012 Jun 18.

Departments 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/10.1186/1479-0556-10-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3416570PMC
June 2012

Gene therapy for aromatic L-amino acid decarboxylase deficiency.

Sci Transl Med 2012 May;4(134):134ra61

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan.

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http://dx.doi.org/10.1126/scitranslmed.3003640DOI Listing
May 2012

Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

Mol Genet Metab 2012 Jul 24;106(3):281-6. Epub 2012 Apr 24.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.04.013DOI Listing
July 2012

Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.

J Pediatr 2012 Oct 9;161(4):626-31.e2. Epub 2012 May 9.

Department of Pediatrics, National Taiwan University Hospital Yun-Lin Branch, Yun-Lin County, Taiwan.

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http://dx.doi.org/10.1016/j.jpeds.2012.03.038DOI Listing
October 2012

Early pathologic changes and responses to treatment in patients with later-onset Pompe disease.

Pediatr Neurol 2012 Mar;46(3):168-71

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

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https://linkinghub.elsevier.com/retrieve/pii/S08878994110054
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http://dx.doi.org/10.1016/j.pediatrneurol.2011.12.010DOI Listing
March 2012

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

J Med Genet 2011 Oct 31;48(10):669-81. Epub 2011 Aug 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1136/jmedgenet-2011-100222DOI Listing
October 2011