Lista de obras - Ni-Chung Lee - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

AADC deficiency: occurring in humans, modeled in rodents.

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Brain damage by mild metabolic derangements in methylmalonic acidemia.

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2009

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

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

artículo científico publicado en 2020

Comparison of GATK and DeepVariant by trio sequencing

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Down syndrome in diverse populations.

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2010

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Integrated care for Down syndrome

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Long-term outcome for Down syndrome patients with hematopoietic disorders

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 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).

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Newborn screening for neuropathic lysosomal storage disorders.

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Outcome of early-treated type III Gaucher disease patients

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2014

Pseudogene-derivedIKBKGgene mutations in incontinentia pigmenti

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Russell–Silver syndrome presenting with ambiguous genitalia

artículo científico publicado en 2016

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

artículo científico publicado en 2022

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Lista de obras de 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, 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

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