Lista de obras -

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

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

artículo científico publicado en 2017

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

artículo científico publicado en 2016

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

artículo científico publicado en 2014

Identification of type 2 diabetes loci in 433,540 East Asian individuals

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Meta-analysis identifies common variants associated with body mass index in east Asians

artículo científico publicado en 2012

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations

artículo científico publicado en 2012

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

artículo científico publicado en 2014

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Lista de obras de

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

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

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

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

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

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

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Identification of type 2 diabetes loci in 433,540 East Asian individuals

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

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

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

Meta-analysis identifies common variants associated with body mass index in east Asians

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

Outcome of early-treated type III Gaucher disease patients

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

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

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