Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.

Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease

Pizzini, Francesca;
2003

Abstract

Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.
Pelizaeus-Merzbacher Disease
Phenotype
Polymorphism, Single-Stranded Conformational
Reference Values
Spastic Paraplegia, Hereditary
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Membrane Proteins
Aspartic Acid
Brain
Child
Child, Preschool
Choline
Creatine
Diagnosis, Differential
Dominance, Cerebral
Energy Metabolism
Humans
Male
Myelin Proteolipid Protein
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1079030
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