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List of works by Shu-Chuan Chiang

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

scientific article published on 24 April 2012

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

scientific article published on 2 June 2008

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

scientific article published on 06 September 2010

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

scientific article published on 3 January 2013

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

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

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

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

scientific article

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

scientific article

Spectrum of hypermethioninemia in neonatal screening.

scientific article published on 19 December 2004

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

scientific article published on 01 April 2020

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