Asami Hirakiyama
Setagaya, 1578535, Japan
Last Updated: 09/26/2026
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Found 9 publications
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.
Journal: Biochemistry and biophysics reports
Published: December 22, 2025
Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene.
Journal: Journal of the neurological sciences
Published: December 29, 2017
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Journal: Molecular genetics and metabolism reports
Published: September 26, 2017
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Journal: Molecular genetics and metabolism
Published: March 27, 2016
The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.
Journal: Journal of dermatological science
Published: February 12, 2014
The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.
Journal: The British journal of dermatology
Published: December 17, 2013
Prostaglandin E2 increase in pachydermoperiostosis without 15-hydroprostaglandin dehydrogenase mutations.
Journal: Acta dermato-venereologica
Published: June 28, 2012
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.
Journal: Journal of dermatological science
Published: April 24, 2012
Transcriptome tomography for brain analysis in the web-accessible anatomical space.
Journal: PloS one
Published: April 14, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026