Hsiao-Jan Chen
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Explore the profile of Hsiao-Jan Chen including associated specialties, affiliations and a list of published articles.
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29
Citations
350
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Recent Articles
1.
Lin H, Lee C, Chang Y, Tu Y, Lo Y, Wu J, et al.
Genet Med
. 2024 Oct;
26(12):101286.
PMID: 39375993
Purpose: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase. Methods: From September 2019 to October 2023, a total of 264,843 Taiwanese newborns...
2.
Chen L, Chu C, Lin Y, Chen H, Kao S, Huang C
Neonatology
. 2023 Feb;
120(2):217-224.
PMID: 36780888
Introduction: High-end cutoffs of thyroid-stimulating hormone (TSH) have been emphasized for hypothyroidism therapy in extremely preterm infants, but the significance of low TSH levels remains unknown. This study hypothesized that...
3.
Gelb M, Basheeruddin K, Burlina A, Chen H, Chien Y, Dizikes G, et al.
Int J Neonatal Screen
. 2022 Dec;
8(4).
PMID: 36547379
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS)....
4.
Joyce Liao H, Chen H
Methods Mol Biol
. 2022 Sep;
2546:261-269.
PMID: 36127596
Deficiencies of the enzymes in lysosomes result in the accumulation of undegraded materials and subsequently cellular dysfunction. Early identification of deficiencies can lead to better clinical outcomes before irreversible organ...
5.
Chuang C, Tu Y, Lee C, Lo Y, Chang Y, Liu M, et al.
Int J Mol Sci
. 2022 Sep;
23(17).
PMID: 36077388
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for...
6.
Lin H, Chang Y, Lee C, Tu Y, Lo Y, Hung P, et al.
J Pers Med
. 2022 Jul;
12(7).
PMID: 35887520
Background: Mucopolysaccharidosis II (MPS II) is an X-linked disorder resulting from a deficiency in lysosomal enzyme iduronate-2-sulfatase (IDS), which causes the accumulation of glycosaminoglycans (GAGs) in the lysosomes of many...
7.
Chuang C, Lee C, Tu R, Lo Y, Sisca F, Chang Y, et al.
Diagnostics (Basel)
. 2021 Sep;
11(9).
PMID: 34573925
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases (LSDs) caused by an inherited gene defect. MPS patients can remain undetected unless the initial signs or symptoms have been identified....
8.
Chiu Y, Liu Y, Chen H, Chang Y, Kao S, Liu M, et al.
Data Brief
. 2019 Jul;
25:104129.
PMID: 31294066
Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency; OMIM #300908) is the most common inborn error disorders worldwide. While the G6PD is the key enzyme of removing oxidative stress in erythrocytes, the early...
9.
Chiu Y, Chen H, Chang Y, Liu Y, Kao S, Liu M, et al.
Clin Chim Acta
. 2019 Apr;
495:271-277.
PMID: 31022393
Background: Patients with glucose-6-phosphate dehydrogenase deficiency might develop acute hemolytic anemia, chronic hemolytic anemia, and neonatal hyperbilirubinemia when exposed to high levels of oxidative stress. Severe hemolysis may occur in...
10.
Chan M, Liao H, Gelb M, Chuang C, Liu M, Chen H, et al.
J Pediatr
. 2018 Nov;
205:176-182.
PMID: 30409495
Objective: To evaluate the initial cutoff values, rates of screen positives, and genotypes for the large-scale newborn screening program for multiple mucopolysaccharidoses (MPS) in Taiwan. Study Design: More than 100...