Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA
スポンサーリンク
概要
- 論文の詳細を見る
- 2004-10-22
著者
関連論文
- GAG Assay by Tandem Mass Spectrometry : Application to New-born Screening for Mucopolysaccahridoses
- Optimization of Electroporation for Transfection of Human Fibroblast Cell Lines with Origin-Defective SV40 DNA: Development of Human Transformed Fibroblast Cell Lines with Mucopolysaccharidoses (I〜VII)
- MUCOPOLYSACCHARIDOSIS IVA : A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON 4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO DISEASE
- Identification of a common mutation in mucopolysaccharidosis IVA : correlation among genotype, phenotype, and keratan sulfate
- Development of Murine Models of Mucopolysaccharidosis IVA and VII and Hereditary Hemochromatosis
- Development of Mucopolysaccahridosis IVA mouse tolerant to human GALNS
- General Implications for CpG Hot Spot Mutations : Methylation Patterns in Hunter patients
- Development of bone targeting system on mucopolysaccharidosis IVA
- Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA
- KS and HS levels as a biomarker for MPS I patients treated by enzyme replacement therapy
- Heparan Sulfate Levels in Mucopolysaccharidoses and Mucolipidoses
- Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) : Biological, Clinical and Therapeutic Aspects
- Development of a therapeutic bone-targeting system for mucopolysaccharidoses