Chia-feng Yang
TPQ 11230, Taiwan
Last Updated: 09/26/2026
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Found 56 publications
Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.
Journal: Children (Basel, Switzerland)
Published: June 18, 2026
Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.
Journal: Journal of the Endocrine Society
Published: September 30, 2025
Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease.
Journal: American journal of medical genetics. Part A
Published: May 27, 2025
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Journal: Molecular genetics and metabolism reports
Published: June 17, 2024
The lived experience of mothers caring for school-age children with Pompe disease: A qualitative study.
Journal: Journal of pediatric nursing
Published: February 18, 2024
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.
Journal: Orphanet journal of rare diseases
Published: January 19, 2024
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.
Journal: Molecular genetics and metabolism reports
Published: November 13, 2023
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
Journal: International journal of medical sciences
Published: March 09, 2023
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy.
Journal: Molecular genetics and metabolism reports
Published: June 21, 2022
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
Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study.
Journal: Neurourology and urodynamics
Published: February 14, 2022
Flexible Endoscopy With Non-invasive Ventilation Enables Clinicians to Assess and Manage Infants With Severe Bronchopulmonary Dysplasia.
Journal: Frontiers in pediatrics
Published: December 16, 2021
Last Updated: 09/26/2026