Y. Chien

Y. Chien, S. Shyur, Li-Hsin Huang, 2006, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

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.

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.

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.

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.

A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan

Y. Chien, C. Chao, Pei-Hsin Huang, 2021, Neuromuscular Disorders.

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

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

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

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

Clinical Features and Genetic Analysis of Taiwanese Patients With the Hyper IgM Syndrome Phenotype

Y. Chien, T. Yao, L. Ou, 2013, The Pediatric infectious disease journal.

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.

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.

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

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

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

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.

SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma.

Y. Chien, Kuei-Wen Chang, C. Yeh, 2011, Molecular genetics and metabolism.

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.

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.

Gestational age, not transient hyperthyrotropinemia impacts brain white matter diffusion tensor imaging in premature infants.

Y. Chien, Chen-Chang Lee, C. Lui, 2017, Experimental and therapeutic medicine.

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

Tong-Xin Chen, Y. Chien, Y. Lau, 2017, Front. Immunol..

Title Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

Thi Minh Huong Le, Li Ping Jiang, Tong-Xin Chen, 2017 .

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Y. Chien, J. Majewski, D. Watkins, 2012, Molecular genetics and metabolism.

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.

X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

Y. Chien, Y. Lau, Yao-Hsu Yang, 2015, Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi.

Comparison of GATK and DeepVariant by trio sequencing

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

Clinical characteristics and outcomes of primary antibody deficiency: a 20-year follow-up study.

Y. Chien, Yao-Hsu Yang, B. Chiang, 2014, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

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

Transcatheter closure of portal-systemic shunt combining congenital double extrahepatic inferior vena cava with vascular plug.

Y. Chien, S. Chiu, Jou-Kou Wang, 2008, The Journal of pediatrics.

Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Y. Chien, Y. Tung, Wei-Yu Tsai, 2022, Journal of the Formosan Medical Association = Taiwan yi zhi.

AADC deficiency: occurring in humans, modeled in rodents.

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

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.

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.

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Y. Chien, R. Tomanin, R. Giugliani, 2021, Human mutation.

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

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

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.

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.

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.

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.

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.

Typhoid fever presenting as infection-associated hemophagocytic syndrome: report of one case.

Y. Chien, D. Lin, C. Y. Lee, 1999, Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi.

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

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

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

M. Baumgartner, G. Scarano, Y. Chien, 2009, Human mutation.

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.

Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif

Jenn-Kang Hwang, Y. Chien, Y. Jong, 2011, BMC Structural Biology.

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.

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.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Y. Chien, A. Broomfield, A. Brassier, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Y. Chien, V. Kimonis, N. Leslie, 2019, Human mutation.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

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.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

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.

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.

Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.

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

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

Y. Chien, B. Schoser, S. Illarioshkin, 2023, JAMA neurology.

Rehospitalization of extremely-low-birth-weight infants in first 2 years of life.

Y. Chien, P. Tsao, H. Chou, 2002, Early human development.

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.

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

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

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.

DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms

Yin-Hsiu Chien, Ta-Wei Yang, Yi-Hao Li, 2021, Australian Journal of Forensic Sciences.

Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan

Y. Chien, K. Hsiao, Shuan-Pei Lin, 2014, Biochemical Genetics.

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.

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.

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.

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

Y. Chien, R. Giugliani, D. Matern, 2022, International journal of neonatal screening.

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.

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.

Identification of variations in the human phosphoinositide 3‐kinase p110δ gene in children with primary B‐cell immunodeficiency of unknown aetiology

Y. Chien, B. Chiang, S. Shyur, 2006, International journal of immunogenetics.

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.

Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients

Y. Chien, B. Schoser, S. Illarioshkin, 2021 .

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.

Precocious puberty in patients with Pompe disease

Y. Chien, Y. Tung, M. Tsai, 2023, Frontiers in endocrinology.

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.

Intravenous and Intrathecal Onasemnogene Abeparvovec Gene Therapy in Symptomatic and Presymptomatic Spinal Muscular Atrophy: Long-Term Follow-Up Study (S34.002)

Y. Chien, J. Day, B. Darras, 2023, Wednesday, April 26.

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.

Newborn Screening System Based on Adaptive Feature Selection and Support Vector Machines

Sung-huai Hsieh, Sheau-Ling Hsieh, Chia-Ping Shen, 2009, 2009 Ninth IEEE International Conference on Bioinformatics and BioEngineering.

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.

Sonographic evaluations of the skeletal muscles in patients with Pompe disease.

Y. Chien, L. Özçakar, Chueh-Hung Wu, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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.

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.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Y. Chien, J. Majewski, D. Watkins, 2012, Molecular genetics and metabolism.

Curated incidence of lysosomal storage diseases from the Taiwan Biobank

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