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Molecular Genetics and Metabolism Reports|November 30, 2016
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic stateTakashi Matsuoka, Yoshiyuki Miwa, Makiko Tajika, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|January 10, 2021
Guide for diagnosis and treatment of hyperphenylalaninemiaHaruo Shintaku, Toshihiro Ohura, Masaki Takayanagi, et al.
Biological & Pharmaceutical Bulletin|June 26, 2020
Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and SphingosylphosphorylcholineAnna Iwahori, Masamitsu Maekawa, Aya Narita, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2004
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndromeRie Yoshida, Tomonobu Hasegawa, Yukihiro Hasegawa, et al.
Human Gene Therapy|March 17, 2009
Kinetics and effect of integrin expression on human CD34(+) cells during murine leukemia virus-derived retroviral transduction with recombinant fibronectin for stem cell gene therapyYasuomi Horiuchi, Masafumi Onodera, Yoshitaka Miyagawa, et al.
Clinical Genetics|June 14, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistryLorne A Clarke, Roberto Giugliani, Nathalie Guffon, et al.
Molecular Genetics and Metabolism|June 6, 2021
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in JapanYuta Koto, Norio Sakai, Yoko Lee, et al.
Molecular Genetics and Metabolism|October 11, 2025
Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature reviewBarbara K Burton, Daniel Fertek, Peter S Chin, et al.
The Journal of Clinical Endocrinology and Metabolism|October 16, 2004
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patientsMaki Fukami, Reiko Horikawa, Toshiro Nagai, et al.
International Journal of Molecular Sciences|October 23, 2021
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical DataRoberto Giugliani, Ana Maria Martins, Torayuki Okuyama, et al.
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