List of works - Ni-Chung Lee

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

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

Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?

scientific article published on 12 October 2005

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

scientific article

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

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

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

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

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

scientific article published on August 16, 2012

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

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

scientific article published on 23 December 2019

Congenital Hypopituitarism due to POU1F1 Gene Mutation

article

Congenital Malformations in Newborns—A Challenge Unmet for Decades

scientific article published on 25 November 2014

Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism

scientific article published on 01 October 2004

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

scientific article published on 20 August 2007

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

Down syndrome in diverse populations.

scientific article published in January 2017

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

scientific article published on 2 June 2008

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

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

scientific article published on 06 October 2010

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

scientific article published in April 2010

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

scientific article published on 14 August 2020

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

scientific article published on 28 December 2009

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

scientific article published on 07 January 2019

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

scientific article published on 26 July 2016

Integrated care for Down syndrome

scientific article published on 11 February 2016

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 follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

scientific article published on 20 December 2005

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

scientific article published in March 2008

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

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

scientific article published on 24 November 2015

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

scientific article published on August 31, 2011

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

scientific article published on 9 April 2015

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 methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

scientific article published on June 2010

Newborn screening for neuropathic lysosomal storage disorders.

scientific article published on 08 June 2010

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia

scientific article published on 04 June 2011

Outcome of early-treated type III Gaucher disease patients

scientific article

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

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

scientific article published on 14 July 2014

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

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

scientific article

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

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

scientific article published in 2022

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

scientific article

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

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

scientific article

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

scientific article

Towards a reference genome that captures global genetic diversity

scientific article published on 30 October 2020

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

List of works by Ni-Chung Lee

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

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.

Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?

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

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

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

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

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

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

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

Comparison of GATK and DeepVariant by trio sequencing

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

Congenital Hypopituitarism due to POU1F1 Gene Mutation

Congenital Malformations in Newborns—A Challenge Unmet for Decades

Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism

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

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

Down syndrome in diverse populations.

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

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

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

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

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

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

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

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

Integrated care for Down syndrome

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 follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

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

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

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

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

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

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

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

Newborn screening for neuropathic lysosomal storage disorders.

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia

Outcome of early-treated type III Gaucher disease patients

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

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

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

Pseudogene-derivedIKBKGgene mutations in incontinentia pigmenti

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

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

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

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

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

Russell–Silver syndrome presenting with ambiguous genitalia

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

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

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

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

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

Towards a reference genome that captures global genetic diversity

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

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