Yin-Hsiu Chien

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Wuh-Liang Hwu, Yin-Hsiu Chien, +9 authors Li-Wen Hsu
Human mutation
2009

Fabry disease (alpha-galactosidase A (alpha-Gal A, GLA) deficiency) is a panethnic inborn error of glycosphingolipid metabolism. Because optimal therapeutic outcomes depend on early intervention, a… (More)

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

Yin-Hsiu Chien, S W-Y Chiang, +9 authors Wuh-Liang Hwu
Pediatrics
2008

OBJECTIVE Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid alpha-glucosidase activity and results in progressive, debilitating, and often… (More)

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Paul Labrousse, Yin-Hsiu Chien, +5 authors Wuh-Liang Hwu
Molecular genetics and metabolism
2010

Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid alpha-glucosidase (GAA) activity. This is the first LSD in which newborn screening has… (More)

Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy

Yin-Hsiu Chien, Ni-Chung Lee, Shinn-Forng Peng, Wuh-Liang Hwu
Pediatric Research
2006

The primary manifestations of Pompe disease are muscle weakness and cardiomyopathy. Although accumulation of glycogen has also been seen in the nervous system in patients, the significance of brain… (More)

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

Yin-Hsiu Chien, Ni-Chung Lee, +9 authors Wuh-Liang Hwu
Pediatrics
2009

OBJECTIVE Pompe disease causes progressive, debilitating, and often life-threatening musculoskeletal, respiratory, and cardiac symptoms. Favorable outcomes with early intravenous enzyme-replacement… (More)

Spectrum of hypermethioninemia in neonatal screening.

Yin-Hsiu Chien, S W-Y Chiang, Aichu Huang, Wuh-Liang Hwu
Early human development
2005

Measurement of methionine levels in dried blood spots has been one of the items of neonatal screening in Taiwan for more than 20 years. In 1,701,591 newborns, 17 cases of hypermethioninemia were… (More)

Use of quantitative models to design microbial transport experiments in a sandy aquifer.

T D Scheibe, Yin-Hsiu Chien, Jill Radtke
Ground water
2001

A suite of numerical models was applied to the problem of designing field tracer and bacterial injection experiments in a sandy surficial aquifer near Oyster, Virginia. The models were constructed… (More)

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.

Jan P Kraus, Jindrich Hasek, +12 authors S. Harvey Mudd
Molecular genetics and metabolism
2009

We report studies of six individuals with marked elevations of cystathionine in plasma and/or urine. Studies of CTH, the gene that encodes cystathionine gamma-lyase, revealed the presence among these… (More)

Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment.

Steven Shinn-forng Peng, W Y I Tseng, Yin-Hsiu Chien, Wuh-Liang Hwu, Hon-Man Liu
AJNR. American journal of neuroradiology
2004

BACKGROUND AND PURPOSE Diffusion tensor (DT) images can provide information about the nature of white matter changes, including axonal loss and demyelination. We applied DT imaging to verify white… (More)

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.

Hsiang-po Huang, Pin-Hsun Chen, +10 authors Hung-Chih Kuo
Human molecular genetics
2011

Pompe disease is caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene, which encodes GAA. Although enzyme replacement therapy has recently improved patient survival… (More)

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