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...

ver descrição completa

Detalhes bibliográficos
Autor principal: Singh, Ankur (author)
Outros Autores: Prasad, Rajniti (author), Gupta, Aditya Kumar (author), Sharma, Anil (author), Alves, Sandra (author), Coutinho, Maria Francisca (author), Kapoor, Seema (author), Mishra, Om Prakash (author)
Formato: article
Idioma:eng
Publicado em: 2017
Assuntos:
GNPTAB
Mucolipidosis type II alpha/beta (ML II alpha/beta)
p-nitrocatechol sulphate (p-NCS)
Molecular characterization
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/4285
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/4285

Texto Completo

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

Registos relacionados