Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen, +9

Molecular Genetics and Metabolism

Parasitic DiseasePathogenesisClinical EpidemiologyInfection ControlMedicine

Inherited Complete Deficiency of 20-Kilodalton Homologous Restriction Factor (CD59) as a Cause of Paroxysmal Nocturnal Hemoglobinuria

Manabu Yamashina, E Ueda, Taroh Kinoshita, +10

New England Journal of Medicine

GeneticsImmunologyInherited Complete DeficiencyPathologyHeme Trafficking +17

A Human Gene Responsible for Zellweger Syndrome That Affects Peroxisome Assembly

Nobuyuki Shimozawa, Toshiro Tsukamoto, Yasuyuki Suzuki, +4

Science

Peroxisome AssemblyGeneticsMolecular BiologyPathologyPrimary Defect +18

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Shunji Tomatsu, Adriana M. Montaño, Tatsuo Nishioka, +7

Human Mutation

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

Molecular Cloning of cDNA Encoding Rat Very Long-chain Acyl-CoA Synthetase

Atsushi Uchiyama, Toshifumi Aoyama, Keiju Kamijo, +4

Journal of Biological Chemistry

Growth charts for patients affected with Morquio A disease

Adriana M. Montaño, Shunji Tomatsu, Ana Carolina Brusius, +2

American Journal of Medical Genetics Part A

Japan Elaprase® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Torayuki Okuyama, Akemi Tanaka, Yasuyuki Suzuki, +5

Molecular Genetics and Metabolism

Attenuated Hunter SyndromePathogenesisJapan Elaprase® TreatmentPathologyMps Ii +2

d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

Yasuyuki Suzuki, Ling Jiang, Masayoshi Souri, +8

The American Journal of Human Genetics

Aldehyde DehydrogenaseBiochemistryPeroxisomal DisorderMetabolic DiseaseGenetics +6

Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II

Francyne Kubaski, Hiromasa Yabe, Yasuyuki Suzuki, +16

Biology of Blood and Marrow Transplantation