W. Hwu

W. Hwu, C. Tai, R. Wu, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Terminal Deletion of Chromosome 2q Associated with Graves' Disease : A Case Report and Literature Review

Y. Chien, W. Hwu, W. Tsai, 2004 .

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.

Y. Chien, W. Hwu, N. Lee, 2022, Molecular genetics and metabolism.

Mapping of psoriasis to 17q terminus

Y. Chien, W. Hwu, C. Fann, 2005, Journal of Medical Genetics.

Roles of Glypican-3 through IGF axis and Wnt in Hepatocellular Carcinomas

W. Hwu, W. Cheng, Shu-Hsiang Liu, 2017 .

GPC3 Decreases IGF-1R–Grb10 Interaction and Promotes Cell Invasion in Hepatocellular Carcinoma in a Gender-Dependent Manner

Wei Cheng, W. Hwu, P. Huang, 2020 .

Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice

Hong Wang, W. Tseng, Y. Chien, 2020, Scientific Reports.

Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center

Y. Chien, W. Hwu, Chih-jen Wu, 2018, Kidney and Blood Pressure Research.

Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease

Y. Chien, W. Hwu, S. Chiu, 2008, Paediatric anaesthesia.

A validated disease severity scoring system for adults with type 1 Gaucher disease

W. Hwu, H. Mankin, M. Cappellini, 2010, Genetics in Medicine.

Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease

Der-Sheng Han, Y. Chien, W. Hwu, 2013, PloS one.

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

S. Peng, Y. Chien, W. Hwu, 2016, Orphanet Journal of Rare Diseases.

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

Y. Chien, W. Hwu, Mei-Hwei Chang, 2006, Journal of Inherited Metabolic Disease.

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.

R. Hegele, Y. Chien, W. Hwu, 2009, Molecular genetics and metabolism.

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

Y. Chien, W. Hwu, L. Tsai, 2013, Journal of Inherited Metabolic Disease.

Niemann–Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation

W. Hwu, D. Lin, Y. Hsu, 1999, Bone Marrow Transplantation.

A review of treatment of Pompe disease in infants

Y. Chien, W. Hwu, 2007, Biologics : targets & therapy.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

W. Hwu, Kate Zhang, Z. Lukacs, 2011, Molecular genetics and metabolism.

Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan

W. Hwu, K. Hsiao, Hsiang-Yu Lin, 2010, Journal of the Chinese Medical Association : JCMA.

Screening for pompe disease and fabry disease

Y. Chien, W. Hwu, N. Lee, 2008 .

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

Y. Chien, W. Hwu, F. Lai, 2020, Molecular genetics & genomic medicine.

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

Y. Chien, W. Hwu, N. Lee, 2015, Pediatrics and neonatology.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

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

B. Byrne, Y. Chien, W. Hwu, 2014, Human gene therapy.

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

Y. Chien, W. Hwu, H. Ichinose, 2013, Neurobiology of Disease.

Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations

Y. Chien, W. Hwu, R. Desnick, 2012, Molecular medicine.

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation

Y. Chien, W. Hwu, O. Bodamer, 2013, Journal of Inherited Metabolic Disease.

Trisomy 18 in monozygotic twins with discordant phenotypes.

W. Hwu, P. Tsao, W. Hsieh, 2004, Journal of the Formosan Medical Association = Taiwan yi zhi.

Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations

W. Hwu, A. Kemper, P. Kishnani, 2007, Pediatrics.

Outcome of pulmonary and aortic stenosis in Williams‐Beuren syndrome in an Asian cohort

W. Hwu, E. Wu, Ching-Chia Wang, 2007, Acta paediatrica.

The Genetics of Atopic Dermatitis

Y. Chien, W. Hwu, B. Chiang, 2007, Clinical reviews in allergy & immunology.

Pincer nail deformity as the main manifestation of Clouston syndrome

W. Hwu, Y‐C. Lin, Y-H Hu, 2015, The British journal of dermatology.

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

W. Hwu, H. Hwa, Hsiang-I Yin, 2019, Legal medicine.

Management of Leigh syndrome: Current status and new insights

W. Hwu, H. Tse, D. Jiang, 2018, Clinical genetics.

Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010.

Y. Chien, W. Hwu, C. Chiu, 2011, Immunobiology.

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

W. Hwu, F. Tsai, Shio‐Jean Lin, 2018, American journal of medical genetics. Part A.

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

W. Hwu, F. Tsai, Hsiang-Yu Lin, 2014, Orphanet Journal of Rare Diseases.

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

W. Hwu, K. Swoboda, T. Okuyama, 2017, Pediatrics.

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease☆

Y. Chien, W. Hwu, F. Tsai, 2017, Molecular genetics and metabolism reports.

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

Y. Chien, W. Hwu, F. Tsai, 2015, The Journal of pediatrics.

Rapid progressive course of later-onset Pompe disease in Chinese patients.

Y. Chien, W. Hwu, Y. Jong, 2011, Molecular genetics and metabolism.

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

Y. Chien, W. Hwu, Pei-Hsin Huang, 2012, Pediatric neurology.

TO JMG Mapping of psoriasis to 17 q terminus

Y. Chien, W. Hwu, C. Fann, 2005 .

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

Y. Chien, W. Hwu, N. Lee, 2013, Pediatrics and neonatology.

Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

Y. Chien, W. Hwu, Y. Chiu, 2001, Journal of Inherited Metabolic Disease.

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

H. Blom, Y. Chien, W. Hwu, 2015, Orphanet Journal of Rare Diseases.

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Y. Chien, W. Hwu, F. Corrales, 2010, Molecular genetics and metabolism.

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

Y. Chien, W. Hwu, F. Tsai, 2017, Molecular genetics and metabolism.

Two novel mutations in the α‐galactosidase A gene in Chinese patients with Fabry disease

W. Hwu, L. Lai, Y. Lien, 2003 .

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

Y. Chien, W. Hwu, T. Ko, 2017, The Journal of pediatrics.

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.

Y. Chien, W. Hwu, Petra Olivova, 2011, Molecular genetics and metabolism.

In vitro DNA methylation inhibits FMR-1 promoter.

W. Hwu, Y. M. Lee, S. C. Lee, 1993, Biochemical and Biophysical Research Communications - BBRC.

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

Y. Chien, W. Hwu, Wang-Tso Lee, 2020, Genetics in Medicine.

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

W. Hwu, L. Tsai, Hung Li, 2006, Neurobiology of Disease.

Outcome of early-treated type III Gaucher disease patients.

Y. Chien, W. Hwu, F. Tsai, 2014, Blood cells, molecules & diseases.

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

Y. Chien, W. Hwu, W. Hsieh, 2008, European Journal of Pediatrics.

The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis.

Y. Chien, W. Hwu, Wang-Tso Lee, 2022, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

B. Byrne, Y. Chien, W. Hwu, 2017, Molecular Neurobiology.

Recombinant human acid α-glucosidase

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

Y. Chien, W. Hwu, F. Tsai, 2020, Molecular genetics and metabolism reports.

Development of Newborn Screening for Pompe Disease

Y. Chien, W. Hwu, 2020, International journal of neonatal screening.

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

Y. Chien, W. Hwu, F. Tsai, 2014, Muscle & nerve.

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

Y. Chien, W. Hwu, Jeongho Lee, 2014, JIMD reports.

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Y. Chien, W. Hwu, T. Scholl, 2010, Molecular genetics and metabolism.

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

Y. Chien, W. Hwu, F. Tsai, 2008, Pediatrics.

Alglucosidase Alfa (Myozyme ®) in Infants and Children with Rapidly Progressive Pompe Disease

B. Byrne, H. Mandel, W. Hwu, 2008 .

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

Y. Chien, W. Hwu, Z. Lukacs, 2010, Clinica chimica acta; international journal of clinical chemistry.

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

W. Hwu, J. Vockley, U. Engelke, 2001, American journal of human genetics.

Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.

W. Hwu, Wang-Tso Lee, W. Weng, 2008, Pediatrics and neonatology.

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

Y. Chien, W. Hwu, F. Tsai, 2011, The Journal of pediatrics.

P.384 Outcomes after 1-year in presymptomatic infants with genetically diagnosed spinal muscular atrophy (SMA) treated with nusinersen: interim results from the NURTURE study

W. Hwu, E. Bertini, W. Farwell, 2017, Neuromuscular Disorders.

A promoter sequence variant of ZNF750 is linked with familial psoriasis.

Y. Chien, W. Hwu, Yuan-Tsong Chen, 2008, The Journal of investigative dermatology.

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

Y. Chien, W. Hwu, Wen-I Lee, 2015, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

W. Hwu, P. Kishnani, 2017, Pediatrics.

Hyperammonemia and positive allopurinol test in hyperinsulinism–hyperammonemia syndrome: Taiwanese case report

W. Hwu, Lung-Chang Lin, Rei-Cheng Yang, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

Yi-Hsuan Chen, Y. Chien, W. Hwu, 2022, npj Genomic Medicine.

Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy.

W. Hwu, L. Tsai, C. Ting, 2009, The Journal of pediatrics.

Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

W. Hwu, Ching Hsu, N. Lee, 2022 .

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Caloric restriction in Alström syndrome prevents hyperinsulinemia

J. Naggert, Y. Chien, W. Hwu, 2009, American journal of medical genetics. Part A.

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

B. Byrne, Y. Chien, W. Hwu, 2017, The Lancet. Child & adolescent health.

Fucosidosis in a Chinese girl

W. Hwu, W. Wang, T. R. Wang, 1994, Journal of Inherited Metabolic Disease.

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later‐onset GLA mutation c.936+919G>A (IVS4+919G>A)

Y. Chien, W. Hwu, R. Desnick, 2009, Human mutation.

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

M. Gelb, Y. Chien, W. Hwu, 2020, Orphanet Journal of Rare Diseases.

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

Y. Chien, W. Hwu, N. Lee, 2018, International journal of neonatal screening.

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

Y. Chien, W. Hwu, O. Bodamer, 2013, Annals of laboratory medicine.

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

Y. Chien, W. Hwu, P. Smith, 2015, JIMD reports.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

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

Y. Chien, W. Hwu, Kai-Ling Chang, 2020, International journal of neonatal screening.

Newborn screening: Taiwanese experience.

Y. Chien, W. Hwu, N. Lee, 2019, Annals of translational medicine.

Molecular genetic study of Pompe disease in Chinese patients in Taiwan

W. Hwu, T. Ko, H. Hwa, 1999, Human mutation.

The controversy regarding diagnostic criteria for early myoclonic encephalopathy

W. Hwu, Wang-Tso Lee, C. Young, 1998, Brain and Development.

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

T. Conlon, B. Byrne, Y. Chien, 2012, Genetic vaccines and therapy.

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

S. Kuo, Chih-ping Chen, W. Hwu, 2011, Taiwanese journal of obstetrics & gynecology.

Long-term efﬁcacy and safety of eladocagene exuparvovec in patients with AADC deﬁciency

B. Byrne, Y. Chien, W. Hwu, 2022 .

Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA

Y. Chien, W. Hwu, L. Wong, 2020, bioRxiv.

Biparental Inheritance of Mitochondrial DNA in Humans

Y. Chien, W. Hwu, L. Wong, 2018, Proceedings of the National Academy of Sciences.

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.

W. Hwu, F. Tsai, Shio‐Jean Lin, 2016, Molecular genetics and metabolism.

Poor Outcome for Neonatal-Type Nonketotic Hyperglycinemia Treated With High-Dose Sodium Benzoate and Dextromethorphan

Y. Chien, W. Hwu, Wang-Tso Lee, 2004, Journal of child neurology.

Gene Therapy for Aromatic l-Amino Acid Decarboxylase Deficiency

B. Byrne, Y. Chien, W. Hwu, 2012, Science Translational Medicine.

MRI in a case of adult-onset citrullinemia

W. Hwu, Y.-C. Huang, Y-F Chen, 2001, Neuroradiology.

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Y. Chien, W. Hwu, Hui-Chen Ho, 2019, Orphanet Journal of Rare Diseases.

Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?

W. Hwu, P. Lai, S. Chu, 2012 .

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.

W. Hwu, Y. Suzuki, K. Narisawa, 2000, Journal of the Formosan Medical Association = Taiwan yi zhi.

Neonatal screening and monitoring system in Taiwan.

W. Hwu, K. Hsiao, W. Tsai, 2003, The Southeast Asian journal of tropical medicine and public health.

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.

Y. Chien, W. Hwu, Jer-Yuarn Wu, 2005, Molecular vision.

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses

W. Hwu, Hsiang-Yu Lin, Shuan-Pei Lin, 2019, Molecular genetics & genomic medicine.

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

Chih-ping Chen, Y. Chien, W. Hwu, 2010, Journal of Inherited Metabolic Disease.

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

Y. Chien, W. Hwu, F. Tsai, 2016, Molecular genetics and metabolism reports.

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

W. Hwu, Xuefan Gu, T. Okuyama, 2012, Molecular genetics and metabolism.

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation

W. Hwu, K. Hsiao, Y. Lee, 1999, Human Genetics.

Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency.

Y. Chien, W. Hwu, Wen-bin Yang, 2016, European journal of medicinal chemistry.

Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.

W. Hwu, W. Tsai, J. S. Lee, 1993, Journal of the Formosan Medical Association = Taiwan yi zhi.

Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease.

Y. Chien, W. Hwu, M. Lai, 2002, Journal of the Formosan Medical Association = Taiwan yi zhi.

Integrated care for Down syndrome

Y. Chien, W. Hwu, N. Lee, 2016, Congenital anomalies.

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)

Y. Chien, W. Hwu, F. Tsai, 2018, Orphanet Journal of Rare Diseases.

Thymidine Kinase 2 Deficiency-Induced Adult-Onset Ptosis and Proximal Weakness.

W. Hwu, C. Chao, S. Hsieh, 2020, Neurology. Clinical practice.

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

Wuh-Liang Hwu, Yung-Ming Jeng, W. Hwu, 2006, The Journal of pediatrics.

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

W. Hwu, K. Hsiao, T. Saheki, 2003, Molecular genetics and metabolism.

A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13gene

W. Hwu, T. Saheki, Y. Hu, 2001, Journal of medical genetics.

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

Y. Chien, W. Hwu, N. Lee, 2020, Scientific Reports.

Identification of forty‐five novel and twenty‐three known NF1 mutations in Chinese patients with neurofibromatosis type 1

W. Hwu, F. Hsieh, D. Stephenson, 2006, Human mutation.

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

W. Hwu, C. Fann, W. Tsai, 2018, Pediatric diabetes.

Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA.

J E Darnell, D. Valle, J. Darnell, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios

Y. Chien, W. Hwu, Y. Jeng, 2021, Frontiers in Genetics.

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

B. Byrne, W. Hwu, N. Lee, 2016, Human molecular genetics.

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Y. Chien, W. Hwu, Tzu-Jou Wang, 2010, American journal of medical genetics. Part A.

Diversity in heritable disorders of connective tissue at a single center

Y. Chien, W. Hwu, N. Lee, 2020, Connective tissue research.

Towards a reference genome that captures global genetic diversity

David I. K. Martin, P. Kwok, M. Xiao, 2020, Nature Communications.

Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review.

Y. Chien, W. Hwu, Y. Tung, 2022, Journal of the Formosan Medical Association = Taiwan yi zhi.

Gene therapy with modified U1 small nuclear RNA

W. Hwu, N. Lee, Yu‐may Lee, 2017, Expert review of endocrinology & metabolism.

Y. Chien, W. Hwu, Po-Huang Lee, 2003, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

PSORS2 is due to mutations in CARD14.

A. Bowcock, W. Hwu, Cailin E. Joyce, 2012, American Journal of Human Genetics.

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

Y. Chien, W. Hwu, M. Chiu, 2017, Front. Aging Neurosci..

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

W. Hwu, K. Kuo, W. Tsai, 2019, American journal of medical genetics. Part A.

RNF4 is a coactivator for nuclear factor Y on GTP cyclohydrolase I proximal promoter.

W. Hwu, R. Mantovani, Sheng-Ming Wu, 2004, Molecular pharmacology.

FMR1 enhancer is regulated by cAMP through a cAMP-responsive element.

W. Hwu, Y. M. Lee, T. R. Wang, 1997, DNA and cell biology.

Pseudogene‐derived IKBKG gene mutations in incontinentia pigmenti

Y. Chien, W. Hwu, T. Ko, 2009, Clinical genetics.

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

Y. Chien, W. Hwu, Yuan-Tsong Chen, 2012, Journal of child neurology.

Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer

King-Jen Chang, Y. Chien, W. Hwu, 2012, Journal of Human Genetics.

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

Y. Chien, W. Hwu, W. Tsai, 2019, Journal of the Formosan Medical Association = Taiwan yi zhi.

Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease.

W. Hwu, Y. Jeng, V. Ling, 2008, Journal of biomedical science.

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.

W. Hwu, L. Wong, P. Dai, 2001, Molecular genetics and metabolism.

Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia

W. Hwu, T. Ko, S. Chiang, 2000, Journal of Human Genetics.

Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

W. Hwu, L. Wong, C. Lam, 1998, Human Genetics.

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

Y. Chien, W. Hwu, Hsiu-Hao Chang, 2016, Journal of the Formosan Medical Association = Taiwan yi zhi.

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Wuh-Liang Hwu, Hanna Mandel, H. Mandel, 2006, The Journal of pediatrics.

Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses.

Y. Chien, W. Hwu, F. Lai, 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return.

S. Peng, W. Hwu, M. Kuo, 2001, American journal of medical genetics.

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

W. Hwu, F. Tsai, Chang-Hai Tsai, 2006, Blood cells, molecules & diseases.

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

W. Hwu, N. Lee, Cheng-Shyong Chang, 2009, Prenatal diagnosis.

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome

W. Hwu, E. Spector, P. Chiang, 2009, American journal of medical genetics. Part A.

CGT-Content Vol-22-3

W. Hwu, S. Muramatsu, Bruria Gidoni-Ben-Zeev, 2022 .

Comparison of GATK and DeepVariant by trio sequencing

Pi-Chuan Chang, Y. Chien, W. Hwu, 2022, Scientific Reports.

Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.

W. Hwu, Y. Z. Shen, P. Wang, 1997, Pediatric neurology.

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

P. Kwok, W. Hwu, Yen-Yin Chou, 2020, Human mutation.

Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome.

W. Hwu, H. Chiu, P. Chan, 2002, Clinical dysmorphology.

Identification and management of cardiac perforation from a double lumen catheter in an infant

Y. Chien, W. Hwu, W. Ko, 2007, Paediatric anaesthesia.

AADC deficiency: occurring in humans, modeled in rodents.

Y. Chien, W. Hwu, H. Ichinose, 2013, Advances in pharmacology.

Transfusion‐acquired cytomegalovirus infection in children in a hyperendemic area

W. Hwu, C. Kao, P. Lee, 1992, Journal of medical virology.

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

W. Hwu, N. Lee, M. Ho, 2010, Pediatric transplantation.

Diagnosis of I-cell disease.

W. Hwu, W. Wang, T. R. Wang, 1994, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui.

RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients

Y. Chien, W. Hwu, Yen‐Hua Huang, 2021, Scientific data.

Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.

Y. Chien, W. Hwu, T. Ariga, 2004, Human genetics.

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

Chih-ping Chen, W. Hwu, F. Tsai, 2008, Clinica chimica acta; international journal of clinical chemistry.

Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation

W. Hwu, Ching-Chia Wang, K. Lin, 2008, World journal of pediatrics : WJP.

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

Y. Chien, W. Hwu, Wen-Yu Liu, 2021, Scientific Reports.

Treating Hypernasal Speech in Children with Infantile-Onset Pompe Disease: Effectiveness of Continuous Positive Airway Pressure

Y. Chien, W. Hwu, Wen-Yu Liu, 2021 .

A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome

Y. Chien, W. Hwu, N. Lee, 2017, Neurology and Therapy.

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012

Y. Chien, W. Hwu, F. Tsai, 2016, Orphanet Journal of Rare Diseases.

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

W. Hwu, F. Tsai, Shio‐Jean Lin, 2019, Diagnostics.

Expert recommendations for the laboratory diagnosis of MPS VI.

W. Hwu, M. Pasquali, C. Hendriksz, 2012, Molecular genetics and metabolism.

Human alpha-L-iduronidase (IDUA) gene: apparent recombination in intron 2 by haplotype analysis in a Taiwanese population.

W. Hwu, T. R. Wang, G. Lee-Chen, 1998, Journal of the Formosan Medical Association = Taiwan yi zhi.

Functional independence of Taiwanese patients with mucopolysaccharidoses

W. Hwu, F. Tsai, Hsiang-Yu Lin, 2019, Molecular genetics & genomic medicine.

Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.

W. Hwu, P. Su, P. Chiu, 1998, Journal of the Formosan Medical Association = Taiwan yi zhi.

Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.

W. Hwu, T. R. Wang, 1991, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui.

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)

Y. Chien, W. Hwu, F. Tsai, 2020, Orphanet Journal of Rare Diseases.

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

W. Hwu, F. Tsai, Hsiang-Yu Lin, 2019, Pediatrics and neonatology.

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

R. Finkel, T. Crawford, W. Hwu, 2019, Neuromuscular Disorders.

Advanced therapeutic strategy for hereditary neuromuscular diseases.

B. Byrne, Y. Chien, W. Hwu, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Spectrum of hypermethioninemia in neonatal screening.

Y. Chien, W. Hwu, A. Huang, 2005, Early human development.

A novel deep intronic variant strongly associates with Alkaptonuria

Y. Chien, W. Hwu, D. Ascher, 2021, NPJ genomic medicine.

Alkaptonuria in a Chinese baby

W. Hwu, T. R. Wang, 1989, Journal of Inherited Metabolic Disease.

Cytogenetic Study of Mentally Retarded Children in Taipei.

W. Hwu, Y. Lai, S. Wang‐Wuu, 1994, Journal of biomedical science.

Tandem mass neonatal screening in Taiwan--report from one center.

Y. Chien, W. Hwu, Hsiang-Po Huang, 2006, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

Y. Chien, W. Hwu, Y. Ni, 2012, The Journal of pediatrics.

Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Y. Chien, W. Hwu, Y. Ni, 2008, Journal of pediatric gastroenterology and nutrition.

Neonatal type of nonketotic hyperglycinemia.

W. Hwu, F. Lu, P. Wang, 1999, Pediatric neurology.

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

Y. Chien, W. Hwu, Chin-Hsien Lin, 2019, Brain and behavior.

Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency

B. Byrne, Y. Chien, W. Hwu, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

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

Y. Chien, W. Hwu, N. Lee, 2018, JIMD reports.

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

Y. Chien, W. Hwu, W. Tsai, 2017, Journal of the Formosan Medical Association = Taiwan yi zhi.

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry‐red spot myoclonus syndrome

W. Hwu, S. Lai, L. Kao, 2009, European journal of neurology.

Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan.

Y. Chien, W. Hwu, N. Lee, 2008, The Southeast Asian journal of tropical medicine and public health.

Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.

Y. Chien, W. Hwu, W. Tsai, 2002, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

D. Roter, Y. Chien, W. Hwu, 2013, Archives of Disease in Childhood.

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

Y. Chien, W. Hwu, W. Tsai, 2017, Journal of the Formosan Medical Association = Taiwan yi zhi.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

W. Hwu, R. Giugliani, Z. Lukacs, 2018, Molecular genetics and metabolism.

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

Y. Chien, W. Hwu, Chun-Ching Chien, 2020, Blood cells, molecules & diseases.

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

Y. Chien, W. Hwu, W. Craigen, 2012, Genetics in Medicine.

X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.

Y. Chien, W. Hwu, Y. Jeng, 2009, Pediatrics and neonatology.

Early detection of glutaric aciduria type I by newborn screening in Taiwan.

Y. Chien, W. Hwu, A. Huang, 2008, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

Y. Chien, W. Hwu, A. Huang, 2013, Metabolic Brain Disease.

Prevalence of the FMR1 mutation in Taiwan assessed by large‐scale screening of newborn boys and analysis of DXS548‐FRAXAC1 haplotype

W. Hwu, C. Tzeng, Y. Jong, 2005, American journal of medical genetics. Part A.

Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011–2017 in Taiwan

Ching-Hui Chen, W. Hwu, W. Cheng, 2020, Frontiers in Pediatrics.

Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

W. Hwu, S. Tomatsu, Tung Van Nguyen, 2021, Life.

Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.

Y. Chien, W. Hwu, W. Tsai, 2021, Journal of the Formosan Medical Association = Taiwan yi zhi.

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

F. Sedel, W. Hwu, J. E. Wraith, 2009, Molecular genetics and metabolism.

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.

W. Hwu, L. Tsai, C. Ting, 2016, Human molecular genetics.

Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.

Y. Chien, W. Hwu, Shuan-Pei Lin, 2023, Molecular genetics & genomic medicine.

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

Y. Chien, W. Hwu, F. Tsai, 2016, Molecular genetics and metabolism.

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

Y. Chien, W. Hwu, N. Lee, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7

Y. Chien, W. Hwu, H. Hsu, 2022, Journal of pediatric gastroenterology and nutrition.

Slipped capital femoral epiphysis as a complication of growth hormone therapy.

Y. Chien, W. Hwu, W. Tsai, 2007, Journal of the Formosan Medical Association = Taiwan yi zhi.

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses

W. Hwu, F. Tsai, C. Wang, 2014, BioMedicine.

Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.

Chih-ping Chen, W. Hwu, F. Tsai, 2007, Human Genetics.

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

Y. Chien, W. Hwu, Shu-Chien Huang, 2013, Pediatric Nephrology.

Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy.

Y. Chien, W. Hwu, S. Chiu, 2011, Journal of cardiac failure.

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

Y. Chien, W. Hwu, J. Shieh, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

CEREBRAL DIFFUSION TENSOR IMAGES IN INFANTS AND NEONATES WITH INFANTILE ONSET POMPE DISEASE

S. Peng, Y. Chien, W. Hwu, 2011 .

Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy

Y. Chien, W. Hwu, S. Peng, 2006, Pediatric Research.

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

Y. Chien, W. Hwu, Jia‐Feng Wu, 2012, Pediatrics and neonatology.

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.

Y. Chien, W. Hwu, Wang-Tso Lee, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

W. Hwu, B. Burton, P. Kishnani, 2017, Pediatrics.

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.

Y. Chien, W. Hwu, Hsiang-Po Huang, 2011, Human molecular genetics.

Glycogen storage disease type Ib: the first case in Taiwan.

Y. Chien, W. Hwu, C. Lam, 2009, Pediatrics and neonatology.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Schizencephaly in LEOPARD syndrome.

Yin-Hsiu Chien, Wuh-Liang Hwu, Y. Chien, 2009, Pediatric neurology.

Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.

W. Hwu, S. Chiang, Hui-Ying Yeh, 2003, Human genetics.

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment

W. Hwu, Chuan-Jen Hsu, Chen-Chi Wu, 2009, The Laryngoscope.

Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan

W. Hwu, C. Young, Y. Ko, 1994, Brain and Development.

Hereditary progressive dystonia with marked diurnal fluctuation: report of a case.

W. Hwu, Y. Z. Shen, P. Wang, 1989, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui.

Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia

Y. Chien, W. Hwu, C. Shun, 2019, Genetics in Medicine.

Metabolic disorders mimicking Reye's syndrome.

W. Hwu, M. Chang, J. Hou, 2000, Journal of the Formosan Medical Association = Taiwan yi zhi.

Reye's syndrome developing in an infant on treatment of Kawasaki syndrome

W. Hwu, P. Lee, Chih-Ming Wei, 2005, Journal of paediatrics and child health.

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

M. Ho, Y. Chien, W. Hwu, 2019, Orphanet Journal of Rare Diseases.

Eye anomalies and neurological manifestations in patients with PAX6 mutations

Y. Chien, W. Hwu, Hsiang-Po Huang, 2009, Molecular vision.

Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect

Y. Chien, W. Hwu, P. Shih, 2023, Translational vision science & technology.

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

Y. Chien, W. Hwu, Chi-Ling Chen, 2019, Journal of the Formosan Medical Association = Taiwan yi zhi.

[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].

W. Hwu, Keiko Kobayashi, M. Ushikai, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.

Y. Chien, W. Hwu, W. Tsai, 2014, Pediatrics and neonatology.

Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.

W. Hwu, W. Tsai, J. S. Lee, 1991, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui.

Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan.

Y. Chien, W. Hwu, S. Chiang, 2002, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

Outcome of later-onset Pompe disease identified through newborn screening.

Y. Chien, W. Hwu, Kai-Ling Chang, 2022, The Journal of pediatrics.

Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence.

Y. Chien, W. Hwu, B. Bembi, 2008, Journal of structural biology.

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

Y. Chien, W. Hwu, N. Lee, 2022, Molecular genetics and metabolism reports.

Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy.

Y. Chien, W. Hwu, N. Lee, 2022, Pediatrics and neonatology.

Congenital hypopituitarism due to POU1F1 gene mutation.

Y. Chien, W. Hwu, W. Tsai, 2011, Journal of the Formosan Medical Association = Taiwan yi zhi.

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency

Y. Chien, W. Hwu, L. Law, 2007, Journal of Inherited Metabolic Disease.

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.

M. Farrer, M. Hulihan, S. Lincoln, 2005, Archives of neurology.

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

Y. Chien, W. Hwu, N. Tang, 2005, BMC Medical Genetics.

Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): Interim results from the NURTURE study

W. Hwu, E. Bertini, Sandra P. Reyna, 2017 .

Fibrous Dysplasia in a Child with Mitochondrial A8344G Mutation

W. Hwu, Mei-Hwan Wu, P. Fan, 2008, Journal of child neurology.

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

Y. Chien, W. Hwu, Wang-Tso Lee, 2020, Genetics in Medicine.

Brain damage by mild metabolic derangements in methylmalonic acidemia.

Y. Chien, W. Hwu, Tze-tze Liu, 2008, Pediatric neurology.

Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia

W. Hwu, Ming-Liang Lee, Tso‐Ren Wang, 1996 .

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

B. Byrne, Y. Chien, W. Hwu, 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

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

Y. Chien, W. Hwu, N. Lee, 2014, Clinica chimica acta; international journal of clinical chemistry.

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

W. Hwu, L. Tsai, T. R. Wang, 1995, Human molecular genetics.

Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease.

Y. Chien, W. Hwu, Yu‐Ting Chiu, 2022, Bioorganic & medicinal chemistry.

An automated workflow on data processing (AutoDP) for semiquantitative analysis of urine organic acids with GC-MS to facilitate diagnosis of inborn errors of metabolism.

Y. Chien, W. Hwu, Guan-Yuan Chen, 2023, Clinica chimica acta; international journal of clinical chemistry.

Nusinersen in Infants Who Initiate Treatment in a Presymptomatic Stage of Spinal Muscular Atrophy (SMA): Interim Efficacy and Safety Results From the Phase 2 NURTURE Study (S25.001)

E. Bertini, T. Crawford, W. Hwu, 2019 .

Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.

W. Hwu, Y. Jeng, M. Chang, 1996, Journal of the Formosan Medical Association = Taiwan yi zhi.

High incidence of co‐existing GLA variants and stroke susceptibility

Y. Chien, W. Hwu, 2019, European Journal of Neurology.

Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan

Y. Chien, W. Hwu, W. Weng, 2022, Neurological Sciences.

Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency

Y. Chien, W. Hwu, L. Tsai, 2019, Front. Cell. Neurosci..

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

Y. Chien, W. Hwu, 2009, Human genetics.

Interim Efficacy and Safety Results from the Phase 2 NURTURE Study Evaluating Nusinersen in Presymptomatic Infants with Spinal Muscular Atrophy (S46.003)

E. Bertini, W. Hwu, D. Vivo, 2017, Neurology.

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

W. Hwu, K. Hsiao, Y. Lee, 1999 .

Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C

Hong Wang, Y. Chien, W. Hwu, 2023, Heliyon.

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

Y. Chien, W. Hwu, Chin-Hsien Lin, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Congenital generalized lipodystrophy in Taiwan.

Y. Chien, W. Hwu, F. Tsai, 2019, Journal of the Formosan Medical Association = Taiwan yi zhi.

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

A. C. Chinault, W. Hwu, D. Dimmock, 2008, Archives of Disease in Childhood.

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia

W. Hwu, L. Tsai, S. Chuang, 1995 .

Plasma chitotriosidase activity and malaria.

W. Hwu, Yuan-hung Chien, J.‐H. Chen, 2005, Clinica chimica acta; international journal of clinical chemistry.

Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

Chih-ping Chen, Y. Chien, W. Hwu, 2013, Journal of Inherited Metabolic Disease.

Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

Y. Chien, W. Hwu, L. Wong, 2019, Proceedings of the National Academy of Sciences.

Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.

Y. Chien, W. Hwu, T. Ariga, 2004, Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi.

Asymptomatic ASS1 carriers with high blood citrulline levels

Y. Chien, W. Hwu, Kai-Ling Chang, 2022, Molecular genetics & genomic medicine.

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

R. Finkel, T. Crawford, W. Hwu, 2023, Muscle & nerve.

Diagnosis of mucopolysaccharidosis type IIIB.

W. Hwu, J. Hou, T. R. Wang, 1996, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui.

Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up.

W. Hwu, M. Lai, M. Chen, 2005, American journal of ophthalmology.

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing

Y. Chien, W. Hwu, C. Chao, 2023, Journal of neuromuscular diseases.

Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.

Y. Chien, W. Hwu, Jia‐Feng Wu, 2023, The Journal of pediatrics.

Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy

Y. Chien, W. Hwu, Chien-Nan Lee, 2021, Children.

Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.

M. Ho, Y. Chien, W. Hwu, 2005, Journal of the Formosan Medical Association = Taiwan yi zhi.

Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease

W. Hwu, M. Halberthal, B. Thurberg, 2007 .

Clinical features of Pompe disease with motor neuronopathy

Y. Chien, W. Hwu, L. Tsai, 2019, Neuromuscular Disorders.

Aromatic l‐amino acid decarboxylase deficiency in Taiwan

Y. Chien, W. Hwu, N. Lee, 2023, JIMD reports.

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Y. Chien, W. Hwu, N. Blau, 2023, Molecular genetics and metabolism.

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

C. Manegold, W. Hwu, M. Verbeek, 2010, Neurology.

Ethnically unique disease burden and limitations of current expanded carrier screening panels.

Y. Chien, W. Hwu, Chien-Nan Lee, 2023, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Changing clinical manifestations of Gaucher disease in Taiwan

Y. Chien, W. Hwu, N. Lee, 2023, Orphanet Journal of Rare Diseases.

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

W. Hwu, Chih-Chao Yang, Ming‐Jen Lee, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

W. Hwu, F. Tsai, Shuan-Pei Lin, 2010, Clinical chemistry and laboratory medicine.

Allele distribution at the FMR1 locus in the general Chinese population

W. Hwu, S. Chiang, Yu‐may Lee, 1999, Clinical genetics.

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion.

Y. Chien, W. Hwu, Yih-Dar Shieh, 2013, Molecular genetics and metabolism.

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

Y. Chien, W. Hwu, J. Shieh, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

Y. Chien, W. Hwu, Pei-Hsin Huang, 2012, Pediatric neurology.

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

Y. Chien, W. Hwu, Yao-Hsu Yang, 2019, Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi.

Congenital hypopituitarism due to POU1F1 gene mutation.

Y. Chien, W. Hwu, W. Tsai, 2011, Journal of the Formosan Medical Association = Taiwan yi zhi.

Adenoviral interneuronal transportation after retrograde gene transfer in mice.

S. Shyue, W. Hwu, L. Tsai, 2005, Brain Research. Molecular Brain Research.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

M. Seashore, F. Bamforth, Y. Chien, 2011, Genetics in Medicine.

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

Y. Chien, W. Hwu, W. Tsai, 2022, Frontiers in Endocrinology.

PSORS2 is due to mutations in CARD14.

A. Bowcock, W. Hwu, Cailin E. Joyce, 2012, American journal of human genetics.

Curated incidence of lysosomal storage diseases from the Taiwan Biobank

Y. Chien, W. Hwu, N. Lee, 2023, NPJ genomic medicine.

Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.

Y. Chien, W. Hwu, Pin-Wen Chen, 2023, Molecular genetics and metabolism.

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

B. Byrne, Y. Chien, W. Hwu, 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010.

Y. Chien, W. Hwu, C. Chiu, 2011, Immunobiology.

Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations

W. Hwu, S. Chiang, M.-H. Chang, 1999, Journal of Inherited Metabolic Disease.

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant

Y. Chien, W. Hwu, C. Hsu, 2002, Journal of Inherited Metabolic Disease.

Carnitine transport defect presenting with hyperammonemia: report of one case.

W. Hwu, S. Chiang, T. R. Wang, 2000, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

Y. Chien, W. Hwu, Ni‐Chung Lee, 2010, Pediatric transplantation.

Gene therapy corrects the neurological deficits of mice with sialidosis.

Hong Wang, Y. Chien, W. Hwu, 2024, Gene therapy.

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

P. Kwok, W. Hwu, Yen-Yin Chou, 2020, Human mutation.

The modern face of newborn screening.

Y. Chien, W. Hwu, 2022, Pediatrics and neonatology.

Detection of a homozygous D645E mutation of the acid α‐glucosidase gene and glycogen deposition in tissues in a second‐trimester fetus with infantile glycogen storage disease type II

Chih-ping Chen, W. Hwu, C. Tzen, 2004 .

DNA Haplotype Analysis of CAG Repeat in Taiwanese Huntington’s Disease Patients

K. Gwinn‐Hardy, W. Hwu, Yih-Ru Wu, 2004, European Neurology.

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Y. Chien, W. Hwu, Tzu-Jou Wang, 2010, American journal of medical genetics. Part A.

Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.

W. Hwu, Chuan-Chao Wang, Pen-Jung Wang, 2003, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease.

W. Hwu, 2023, Journal of the Formosan Medical Association = Taiwan yi zhi.

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.

W. Hwu, C. Ting, Chien-Lin Chen, 2016, Human molecular genetics.

Gene therapy for ultrarare diseases: a geneticist’s perspective

W. Hwu, 2024, Journal of biomedical science.

Fatty Acid oxidation disorders in a chinese population in taiwan.

Y. Chien, W. Hwu, M. Chao, 2013, JIMD reports.

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

Y. Chien, W. Hwu, Hui-An Chen, 2024, Frontiers in Immunology.

Y. Chien, W. Hwu, Wen-bin Yang, 2016, European journal of medicinal chemistry.

An infant with heart murmur and dysmorphic face.

Y. Chien, W. Hwu, P. Kuo, 2002, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

Y. Chien, W. Hwu, N. Tang, 2005, BMC Medical Genetics.