List of works - Yin-Hsiu Chien

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

scientific article published on 16 May 2016

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

scientific article published on 11 September 2017

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

scientific article

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

scientific article published on 20 July 2012

A promoter sequence variant of ZNF750 is linked with familial psoriasis

scientific article

AADC deficiency: occurring in humans, modeled in rodents.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 April 2012

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

scientific article

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

scientific article published on 24 June 2013

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

scientific article published on 13 September 2011

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

scientific article

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.

scientific article

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

scientific article published on January 2016

Brain damage by mild metabolic derangements in methylmalonic acidemia.

scientific article

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

scientific article published on 20 July 2006

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

scientific article published on 09 October 2009

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

scientific article published on 09 October 2020

Caloric restriction in Alström syndrome prevents hyperinsulinemia.

scientific article published in February 2009

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan

scientific article published on 14 December 2019

Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

scientific article published on 01 April 2013

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

scientific article published on 27 June 2016

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

Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations

scientific article

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.

scientific article

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

scientific article published on 11 August 2012

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

scientific article published on 06 April 2017

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

scientific article published in March 2011

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

scientific article published on 09 July 2020

Comparison of GATK and DeepVariant by trio sequencing

scientific article published on 02 February 2022

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

scientific article published on 01 September 2010

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

scientific article

Congenital Hypopituitarism due to POU1F1 Gene Mutation

article

Congenital Malformations in Newborns—A Challenge Unmet for Decades

scientific article published on 25 November 2014

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

scientific article published on 26 September 2016

De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma

article

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

scientific article published on 20 August 2007

Development of Newborn Screening for Pompe Disease

scientific article published on 24 January 2020

Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

scientific article

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

scientific article

Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System

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

scientific article

Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

scientific article published on 01 October 2018

Distal arthrogryposis in two sisters born to different fathers

scientific article published on 01 February 2004

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

scientific article

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

scientific article

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

article

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

scientific article published on 2 June 2008

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

scientific article

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

scientific article published on 8 September 2013

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

scientific article published on 06 September 2010

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

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

scientific article published on 15 July 2010

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

scientific article published on 06 October 2010

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

scientific article published on 21 January 2019

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

scientific article

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

scientific article

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

scientific article published on 28 December 2009

High incidence of co-existing GLA variants and stroke susceptibility

scientific article published on 01 June 2019

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

scientific article

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

scientific article published on 01 May 2007

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

scientific article published on 3 January 2013

Integrated care for Down syndrome

scientific article published on 11 February 2016

Integrating human genome database into electronic health record with sequence alignment and compression mechanism.

scientific article

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

scientific article published on 16 October 2012

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

scientific article published on 13 January 2011

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

scientific article published on 09 September 2011

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

scientific article

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

scientific article published on 18 April 2016

Long-term outcome for Down syndrome patients with hematopoietic disorders

scientific article published on 30 July 2015

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

scientific article published on 4 November 2014

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

scientific article published on 19 December 2016

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion

article

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

scientific article published on 30 October 2012

Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography

scientific article published on 24 November 2015

Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation

scientific article published on 03 June 2015

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

scientific article

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

scientific article

Myopathy in Gaucher disease

scientific article

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease

scientific article

Newborn Screening Healthcare Information System Based on Service-Oriented Architecture

article

Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians

scholarly article published August 2012

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

scientific article published on 22 March 2010

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

scientific article

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

scientific article

Newborn screening for neuropathic lysosomal storage disorders.

scientific article published on 08 June 2010

Outcome of early-treated type III Gaucher disease patients

scientific article

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.

scientific article published in November 2002

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

article

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

scientific article published on 18 December 2018

Plasma chitotriosidase activity and malaria.

scientific article published in March 2005

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

scientific article

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

scientific article published on 28 April 2013

Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

scientific article

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

scientific article

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

scientific article published on 05 August 2019

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

scientific article published on 14 July 2014

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

scientific article published on 27 October 2012

Pseudogene-derivedIKBKGgene mutations in incontinentia pigmenti

scientific article published on 28 July 2009

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

publication published on 13 October 2021

Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease

scientific article published on 09 June 2010

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

scientific article published on 26 December 2012

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

scientific article published in January 2002

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

scientific article

Russell–Silver syndrome presenting with ambiguous genitalia

scientific article published on 18 December 2016

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

scientific article published on 15 March 2011

Schizencephaly in LEOPARD syndrome.

scientific article

Slipped Capital Femoral Epiphysis as a Complication of Growth Hormone Therapy

scientific article published on 01 February 2007

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

scientific article published on 17 May 2016

Spectrum of hypermethioninemia in neonatal screening.

scientific article published on 19 December 2004

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

scientific article published on 14 August 2009

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

scientific article published on 01 November 2006

The Genetics of Atopic Dermatitis

article

The Pompe Registry: 10years of data

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

scientific article published on 01 April 2020

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

scientific article published on 02 January 2014

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

scientific article

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

scientific article published in April 2008

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

scientific article

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

scientific article published on 21 June 2007

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

scientific article

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

article

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

scientific article published on 23 May 2013

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

scientific article

List of works by Yin-Hsiu Chien

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

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

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

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

A promoter sequence variant of ZNF750 is linked with familial psoriasis

AADC deficiency: occurring in humans, modeled in rodents.

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

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

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

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

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

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

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

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.

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

Brain damage by mild metabolic derangements in methylmalonic acidemia.

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

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

Caloric restriction in Alström syndrome prevents hyperinsulinemia.

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan

Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

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

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

Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.

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

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

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

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

Comparison of GATK and DeepVariant by trio sequencing

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

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

Congenital Hypopituitarism due to POU1F1 Gene Mutation

Congenital Malformations in Newborns—A Challenge Unmet for Decades

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma

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

Development of Newborn Screening for Pompe Disease

Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System

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

Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

Distal arthrogryposis in two sisters born to different fathers

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

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

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

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

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

Enhanced interpretation of newborn screening results without analyte cutoff values.

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

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

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

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

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

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

High incidence of co-existing GLA variants and stroke susceptibility

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

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

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

Integrated care for Down syndrome

Integrating human genome database into electronic health record with sequence alignment and compression mechanism.

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

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

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

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

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

Long-term outcome for Down syndrome patients with hematopoietic disorders

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

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

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion

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

Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography

Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation

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

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