Hui-chen Ho

No.146, Sec.3, Chongqing N. Rd
Datong, TPQ 10374, Taiwan

Last Updated: 09/26/2026

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Found 13 publications

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.

Journal: Orphanet journal of rare diseases

Published: November 26, 2024

Comparing Strategies for Critical Congenital Heart Disease Newborn Screening.

Comparing Strategies for Critical Congenital Heart Disease Newborn Screening.

Journal: Pediatrics

Published: October 26, 2022

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.

Journal: Journal of medical genetics

Published: May 29, 2022

Very rare condition of multiple Gaucheroma: A case report and review of the literature.

Very rare condition of multiple Gaucheroma: A case report and review of the literature.

Journal: Molecular genetics and metabolism reports

Published: April 18, 2019

Very rare condition of multiple Gaucheroma: A case report and review of the literature.

Very rare condition of multiple Gaucheroma: A case report and review of the literature.

Journal: Molecular genetics and metabolism reports

Published: February 25, 2019

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Journal: Orphanet journal of rare diseases

Published: October 12, 2018

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.

Journal: Orphanet journal of rare diseases

Published: December 22, 2017

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

Journal: Journal of human genetics

Published: May 02, 2017

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Journal: Journal of the American College of Cardiology

Published: June 10, 2016

Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei.

Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei.

Journal: PloS one

Published: January 04, 2016

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

Journal: The Journal of pediatrics

Published: July 15, 2015

Fatty Acid oxidation disorders in a chinese population in taiwan.

Fatty Acid oxidation disorders in a chinese population in taiwan.

Journal: JIMD reports

Published: April 14, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026