Mucopolisacaridosis tipo VI: a propósito de un caso

Besse, Micaela; Baigorria, Jose Francisco; Ambrosini, Jose Leandro; Baldasarre, Ricardo; Rosado Pardo, Jose Antonio; Sarotto, Anibal.
Rev. Asoc. Argent. Ortop. Traumatol ; 88(2): 187-198, 2023.
Artículo en Español | LILACS, BINACIS | ID: biblio-1427223

Documentos relacionados

  1. Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
  2. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
  3. Phenotypic expansion of ARSK-related mucopolysaccharidosis.
  4. Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
  5. Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.
  6. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
  7. MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment.
  8. Neutrophils and monocytes with increased azurophilic granules resembling toxic changes in mucopolysaccharidosis type VI.
  9. The articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI).
  10. Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots.