Yung-hsiu Lu
Taipei, TNQ 11220, Taiwan
Last Updated: 09/26/2026
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Found 16 publications
Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.
Journal: International journal of molecular sciences
Published: June 18, 2026
Two Faces of the Right Ventricle in Fabry Cardiomyopathy: Septal-Coupled and Atrial-Coupled Strain Patterns and Their Differential Associations with Enzyme Replacement Therapy.
Journal: Biomolecules
Published: June 09, 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
Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.
Journal: Current genomics
Published: August 25, 2024
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
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery.
Journal: Cornea
Published: March 12, 2023
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
Journal: Journal of human genetics
Published: October 10, 2019
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 17, 2017
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Journal: Journal of human genetics
Published: May 02, 2017
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Journal: Investigative ophthalmology & visual science
Published: July 09, 2016
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
Journal: Journal of the American College of Cardiology
Published: June 10, 2016
Last Updated: 09/26/2026