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Publications by Shuan-Pei Lin

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

Primary Coenzyme Q10 Deficiency-7: Expanded Phenotypic Spectrum and a Founder Mutation in Southern Chinese

npj Genomic Medicine

Molecular Biology

English

Normalization of Glycosaminoglycan-Derived Disaccharides Detected by Tandem Mass Spectrometry Assay for the Diagnosis of Mucopolysaccharidosis

Scientific Reports

Multidisciplinary

English

A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan

Orphanet Journal of Rare Diseases

English

Overcoming the Barriers to Diagnosis of Morquio a Syndrome

Orphanet Journal of Rare Diseases

English

AB036. Cardiac Features in Taiwanese Patients With Mucopolysaccharidosis IVA

Annals of Translational Medicine

English

Mucopolysaccharidosis Type II—An Unexpected “3 in 1” Family

Pediatrics and Neonatology

English