A. Hirakiyama

Most-cited papers

1. Retinoic acid imprints gut-homing specificity on T cells.

   M. Iwata, A. Hirakiyama, Yuko Eshima, H. Kagechika +2 more

   2004Immunity1,622 citations Open access

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2. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

   Noriyuki Azuma, A. Hirakiyama, Tadashi Inoue, Atsuko Asaka +1 more

   2000Human Molecular Genetics166 citations

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3. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.

   T. Sasaki, H. Niizeki, A. Shimizu, A. Shiohama +14 more

   2012Journal of dermatological science (Amsterdam)82 citations

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4. 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.

   M. Kosuga, R. Mashima, A. Hirakiyama, Naoko Fuji +7 more

   2016Molecular Genetics and Metabolism72 citations

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5. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

   Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, A. Hirakiyama +5 more

   2017Molecular Genetics and Metabolism Reports44 citations Open access

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6. Transcriptome Tomography for Brain Analysis in the Web-Accessible Anatomical Space

   Y. Okamura-Oho, Kazuro Shimokawa, S. Takemoto, A. Hirakiyama +12 more

   2012PLoS ONE21 citations Open access

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7. Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene.

   Tatsuhiko Ozono, M. Kinoshita, A. Narita, A. Hirakiyama +3 more

   2018Journal of Neurological Sciences5 citations

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8. Prostaglandin E2 increase in pachydermoperiostosis without 15-hydroprostaglandin dehydrogenase mutations.

   Kyoko Nakahigashi, A. Otsuka, H. Doi, Satsuki Tanaka +5 more

   2013Acta Dermato-Venereologica3 citations Open access

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9. Glycosaminoglycans in dried blood spots as a secondary screen for mucopolysaccharidoses

   Wataru Oboshi, Misa Tanaka, A. Hirakiyama, Masahiro Miura +4 more

   2026Molecular Genetics and Metabolism0 citations

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10. Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses

    Wataru Oboshi, A. Hirakiyama, M. Miura, Hikaru Omachi +24 more

    2026Biochemistry and Biophysics Reports0 citations Open access

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11. Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses

    Wataru Oboshi, Misa Tanaka, A. Hirakiyama, Joo-Hyun Seo +3 more

    2024Molecular Genetics and Metabolism0 citations Open access

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12. Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙ

    T. Okuyama, M. Kosuga, A. Hirakiyama, R. Mashima

    20160 citations

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