Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

Shunji Tomatsu, Seiji Fukuda, Michiya Masue, +15

Biochemical and Biophysical Research Communications

Human N-acetylgalactosamine-6-sulfate SulfataseFull-length CdnaMorquio DiseaseBiochemistryPathogenesis +3

N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

Michiya Masue, Kazuko Sukegawa, Tadao Orii, +1

The Journal of Biochemistry

Human PlacentaCellular EnzymologyBiochemistryGalactose-6-sulfate SulfataseMedicine +12

Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24

Mitsuo Masuno, Shunji Tomatsu, Yoshihiro Nakashima, +5

Genomics

Mucopolysaccharidosis Iv AHuman N-acetylgalactosamine-6-sulfate SulfatasePathogenesisGlycobiologyMolecular Biology +3

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

Seiji Fukuda, Shunji Tomatsu, Michiya Masue, +7

Journal of Clinical Investigation

Mild CasesGeneticsMps IvaPathologyMolecular Biology +14

Efficacy and safety of long‐term, continuous subcutaneous octreotide infusion for patients with different subtypes of K_ATP‐channel hyperinsulinism

Tohru Yorifuji, Rie Kawakita, Yuki Hosokawa, +7

Clinical Endocrinology

Molecular and Clinical Analysis of Japanese Patients with Persistent Congenital Hyperinsulinism: Predominance of Paternally Inherited Monoallelic Mutations in the K_ATPChannel Genes

Tohru Yorifuji, Rie Kawakita, Shizuyo Nagai, +10

The Journal of Clinical Endocrinology & Metabolism

Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry

Yuki Hosokawa, Rie Kawakita, Susumu Yokoya, +9

Endocrine Journal

Nationwide RegistryPharmacotherapyClinical GeneticsMolecular PharmacologyMendelian Disorder +15

Diagnostic accuracy of [18F]-fluoro-l-dihydroxyphenylalanine positron emission tomography scan for persistent congenital hyperinsulinism in Japan

Michiya Masue, Hironori Nishibori, Seisuke Fukuyama, +7

Clinical Endocrinology

Intermediate form of mucopolysaccharidosis type II (Hunter disease): A C1327 to T substitution in the iduronate sulfatase gene

Kazuko Sukegawa, Shunji Tomatsu, Katsuyuki Tamai, +6

Biochemical and Biophysical Research Communications

PathogenesisImmunologyPathologyIntermediate FormIduronate Sulfatase Gene +3

Transcatheter closure of patent ductus arteriosus in an infant weighing 1180 g

Noriyuki Haneda, Michiya Masue, Masaru Tasaka, +3

Pediatrics International

Transcatheter ClosurePediatricsVascular SurgeryVascular MalformationSurgery +4