Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Hwu WL 1 , Okuyama T , But WM , Estrada S , Gu X , Hui J Show all authors , Kosuga M , Lin SP , Ngu LH , Shi H , Tanaka A , Thong MK , Wattanasirichaigoon D , Wasant P , McGill J

Affiliations 

  • 1 Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan
Mol Genet Metab, 2012 Sep;107(1-2):136-44.
PMID: 22864057 DOI: 10.1016/j.ymgme.2012.07.019

Abstract

Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage disorder. It presents significant diagnostic and treatment challenges due to the rarity of the disease and complexity of the phenotype. As information about MPS VI in Asia-Pacific countries is limited, a survey was conducted to assess current practices for diagnosis and management of MPS VI in this region. The participants were selected based on their experience in diagnosing and managing MPS patients.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

MeSH terms
Similar publications