I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis

Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a b...

Full description

Bibliographic Details
Main Author: Singh, Ankur (author)
Other Authors: Prasad, Rajniti (author), Gupta, Aditya Kumar (author), Sharma, Anil (author), Alves, Sandra (author), Coutinho, Maria Francisca (author), Kapoor, Seema (author), Mishra, Om Prakash (author)
Format: article
Language:eng
Published: 2017
Subjects:
GNPTAB
Mucolipidosis type II alpha/beta (ML II alpha/beta)
p-nitrocatechol sulphate (p-NCS)
Molecular characterization
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/4285
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/4285

Internet

http://hdl.handle.net/10400.18/4285

Similar Items