Pin-wen Chen
TPQ, Taiwan
Last Updated: 09/26/2026
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Found 15 publications
Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency.
Journal: Molecular genetics and metabolism
Published: June 03, 2023
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.
Journal: Molecular genetics and metabolism reports
Published: June 25, 2022
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Journal: Orphanet journal of rare diseases
Published: November 12, 2019
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.
Journal: International journal of neonatal screening
Published: September 26, 2018
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
Journal: Human molecular genetics
Published: July 27, 2016
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Journal: Molecular genetics and metabolism
Published: April 04, 2016
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: September 25, 2014
Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.
Journal: Human gene therapy
Published: November 21, 2013
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 05, 2013
Chitosan/pectin/gum Arabic polyelectrolyte complex: process-dependent appearance, microstructure analysis and its application.
Journal: Carbohydrate polymers
Published: November 08, 2012
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Journal: Human mutation
Published: October 08, 2012
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
Journal: Neurobiology of disease
Published: September 08, 2012
Last Updated: 09/26/2026