Hsiang‐Yu Lin

China Medical University — Taiwan

Medicine · Health Sciences

38h-index5.4kcitations251works1.22yr avg
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Research Topics

Lysosomal Storage Disorders Research(91), Trypanosoma species research and implications(47), Glycogen Storage Diseases and Myoclonus(29), Carbohydrate Chemistry and Synthesis(24), Prenatal Screening and Diagnostics(24)

Publications223 total

Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem Involvement
Preprints.org·2025Open Access
Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
International Journal of Neonatal Screening·2025Open Access
Effects of phototherapy combined with Lactobacillus salivarius AP-32 or Bifidobacterium animalis subsp. lactis CP-9 on improving neonatal jaundice and gut microbiome health: a randomized double-blind clinical study
Nutrition Journal·2025· 7 citedOpen Access
Febrile Young Infants Less than 120 Days Old in the Post-COVID-19 Pandemic Era: Sterile Pyuria or Urinary Tract Infection?
Journal of Microbiology Immunology and Infection·2025Open Access
Functional Independence of Taiwanese Children with Silver–Russell Syndrome
Diagnostics·2025Open Access
Combined Effects of Prefeeding Oral Stimulation and Infant Massage on Feeding Performance of Preterm Infants in Neonatal Intensive Care Units: A Pilot Study
Archives of Physical Medicine and Rehabilitation·2025
Early Potentially Irreversible Cardiac Damage in Fabry Disease Precedes Gb3 Inclusion Body Formation
Canadian Journal of Cardiology·2025· 2 cited
Systematic Analysis of Multiple Imaging Modalities in Infants Identified as Positive for Mucopolysaccharidosis on Newborn Screening
Preprints.org·2025Open Access
Long-term outcomes of MPS IVA patients treated with elosulfase alfa: Findings from the Morquio A Registry Study (MARS) after 10 years
Molecular Genetics and Metabolism·2025
Newborn screening for mucopolysaccharidosis type IVA: Four years' experience in Taiwan
Molecular Genetics and Metabolism·2025
Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks
International Journal of Medical Sciences·2025· 11 citedOpen Access
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-year Clinical Outcome Study of the First Taiwanese Case
Preprints.org·2024Open Access
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
Diagnostics·2024· 3 citedOpen Access
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: Case Series and Review of the Literature
Preprints.org·2024Open Access
Integrating Genetic Counseling in the Management of Mucopolysaccharidoses
Genetics.·2024Open Access
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
Genetics in Medicine·2024· 2 cited
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome
Diagnostics·2024Open Access
Challenging the Conventional Treatment Initiation Paradigm: Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion Bodies
2024Open Access
Multisystem disorder associated with a pathogenic variant in <scp><i>CLCN7</i></scp> in the absence of osteopetrosis
Molecular Genetics & Genomic Medicine·2024· 1 citedOpen Access
Advancements in Otorhinolaryngological Management of Mucopolysaccharidosis: A Comprehensive Review
Pediatric Respirology and Critical Care Medicine·2024· 1 citedOpen Access
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Frequent Co-authors

Chih‐Kuang Chuang(23), Dau‐Ming Niu(17), Ming‐Ren Chen(11), Shuan‐Pei Lin(11), Wuh‐Liang Hwu(7), Dar‐Shong Lin(6), Pao Chin Chiu(6), Shuan-Pei Lin(6), Shio Jean Lin(5), Fuu‐Jen Tsai(5), Jui‐Hsing Chang(4), Bai‐Horng Su(4), Che‐Sheng Ho(4), Hsuan‐Liang Liu(4), Yun‐Ting Lo(4), Wayseen Wang(4), Chih‐Ping Chen(4), Chuan-Chi Chiang(3), Li‐Ping Tsai(3), Chao Huang(3)