Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodend...

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Detalles Bibliográficos
Autores principales: Lee, Eun, Yum, Mi-Sun, Choi, Hae-Won, Yoo, Han-Wook, You, Su Jeong, Lee, Eun-Hye, Ko, Tae-Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488617/
https://www.ncbi.nlm.nih.gov/pubmed/23133488
http://dx.doi.org/10.3345/kjp.2012.55.10.397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488617/
https://www.ncbi.nlm.nih.gov/pubmed/23133488
http://dx.doi.org/10.3345/kjp.2012.55.10.397

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